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Hanns Lochmüller

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Mark A Hornsey; Steven H Laval; Hanns Lochmüller; Rita Barresi; Kate Bushby
Muscular dystrophy in dysferlin-deficient mouse models.
Judy Cossins; Peter Donnelly; Golara Torabi Farsani; Sarah Finlayson; Debbie Hicks; Steven Laval; Wei Wei Liu; Hanns Lochmüller; Susan Maxwell; Simon J McGowan; Juliane Müller; Jacqueline Palace; Mustafa A Salih; Mohammed Zain Seidhamed; Katarzyna Zoltowska; Katsiaryna Belaya; David Bentley; Nicola Carboni; David Beeson
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Adela Della Marina; Claudia Möller-Hartmann; Angela Pyle; Mauro Santibanez-Koref; Ulrike Schara; Angela Abicht; Patrick F Chinnery; Birgit Czermin; Helen Griffin; Elke Holinski-Feder; Hanns Lochmüller; Rita Horvath
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

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2013: Mark A Hornsey; Steven H Laval; Hanns Lochmüller; Rita Barresi; Kate Bushby
Muscular dystrophy in dysferlin-deficient mouse models.
Neuromuscular disorders : NMD 2013;23(5):377-87.
2013: Judy Cossins; Peter Donnelly; Golara Torabi Farsani; Sarah Finlayson; Debbie Hicks; Steven Laval; Wei Wei Liu; Hanns Lochmüller; Susan Maxwell; Simon J McGowan; Juliane Müller; Jacqueline Palace; Mustafa A Salih; Mohammed Zain Seidhamed; Katarzyna Zoltowska; Katsiaryna Belaya; David Bentley; Nicola Carboni; David Beeson
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Brain : a journal of neurology 2013;136(Pt 3):944-56.
2013: Adela Della Marina; Claudia Möller-Hartmann; Angela Pyle; Mauro Santibanez-Koref; Ulrike Schara; Angela Abicht; Patrick F Chinnery; Birgit Czermin; Helen Griffin; Elke Holinski-Feder; Hanns Lochmüller; Rita Horvath
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
JIMD reports 2013;10():17-22.
2013: Maggie C Walter; Marcus Deschauer; Ralf Kohnen; Wolfram Kress; Clemens Müller-Reible; Peter Reilich; Karlheinz Reiners; Joachim Schessl; Beate Schlotter-Weigel; Bertold Schrank; Herbert Schreiber; Simone Thiele; Peter Urban; Matthias Vorgerd; Hanns Lochmüller
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Orphanet journal of rare diseases 2013;8():26.
2013: Cordula Pertl; Stefan Pfeifer; Maggie C Walter; Erich Wintermantel; Markus Eblenkamp; Sabine Krause; Hanns Lochmüller; Anja Pertl; Christian Thirion
A new web-based method for automated analysis of muscle histology.
BMC musculoskeletal disorders 2013;14():26.
2013: Matias Wagner; Tracey A Willis; Kate Bushby; Amina Chaouch; Michelle Eagle; Juliane S Müller; Tuomo Polvikoski; Anna Sarkozy; Volker Straub; Hanns Lochmüller
Presymptomatic late-onset Pompe disease identified by the dried blood spot test.
Neuromuscular disorders : NMD 2013;23(1):89-92.
2013: Ibrahim Mahjneh; Francesco Muntoni; Hanns Lochmüller; Angela Abicht
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
Neuromuscular disorders : NMD 2013;23(1):36-42.
2012: Vivienne C M Neeve; Carsten Saft; David Samuels; Hubert Smeets; Jan Smeitink; Bart W Smits; Robert W Taylor; Doug M Turnbull; Bianca van den Bosch; Gert Van Goethem; Angela Abicht; Laurence A Bindoff; Patrick F Chinnery; Birgit Czermin; I F M de Coo; Maaike De Vries; Salvatore DiMauro; Grainne G Gorman; Michio Hirano; Elke Holinski-Feder; Gavin Hudson; Claude Jardel; Bianca-Cortina Keiling; Thomas Klopstock; Hanns Lochmüller; Anne Lombès; Rita Horvath
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain : a journal of neurology 2012;135(Pt 12):3614-26.
2012: Anna Sarkozy; Benedikt Schoser; Bertold Schrank; Herbert Schreiber; Jürgen Seeger; Sujit S Vaidya; Maggie C Walter; Anthony Behin; Kate Bushby; Pierre G Carlier; Robert Carlier; Marcus Deschauer; Bruno Eymard; Dieter Gläser; Debbie Hicks; Pascal Laforet; France Leturq; Hanns Lochmüller; Aleksandar Radunovic; Peter Reilich; Volker Straub
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Neuromuscular disorders : NMD 2012;22 Suppl 2():S122-9.
2012: Angela Abicht; Sybille Almaras; Amina Chaouch; Adele Della Marina; Marina Dusl; Constanze Gallenmüller; Velina Guergueltcheva; Angela Huebner; Violeta Mihaylova; Juliane S Müller; Ulrike Schara; Maja von der Hagen; Eva Wibbeler; Hanns Lochmüller
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Human mutation 2012;33(10):1474-84.
2012: Stefanie Bulst; Patrick F Chinnery; Elke Holinski-Feder; Sabine Krause; Hanns Lochmüller; Brendan Payne; Maggie C Walter; Angela Abicht; Rita Horvath
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.
Molecular genetics and metabolism 2012;107(1-2):95-103.
2012: Isabelle Pénisson-Besnier; Jean-Paul Saint-André; Anna Sarkozy; Anne Croué; Debbie Hicks; Judith Hudson; Hanns Lochmüller; Frédéric Dubas
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.
Journal of neurology 2012;259(9):1988-90.
2012: Stefanie Schinkel; Rolf Stucka; Désirée Rutschow; Ralf Bauer; Raffi Bekeredjian; Hugo A Katus; Jürgen A Kleinschmidt; Hanns Lochmüller; Oliver J Müller
Long-term preservation of cardiac structure and function after adeno-associated virus serotype 9-mediated microdystrophin gene transfer in mdx mice.
Human gene therapy 2012;23(6):566-75.
2012: Amina Chaouch; Daniel Hantaï; David Beeson; Hanns Lochmüller
186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2012;22(6):566-76.
2012: E Colombo; C Falcone; F Blasevich; Hanns Lochmüller; Marina Mora; Lucia Morandi; S Romaggi; C Farina
The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress.
Neuropathology and applied neurobiology 2012;38(4):367-78.
2012: Rita Horvath; Gavin Hudson; Bernard Keavney; Jörg Kortler; Hanns Lochmüller; John Loughlin; Vivienne C M Neeve; Birgit Neitzel; Gudrun Nürnberg; Peter Nürnberg; Angela Pyle; Thahira Rahman; Mauro Santibanez-Koref; Benedikt Schoser; Bernd Rautenstrauss; Charlotte Foley; Helen Griffin; Sophie Hambleton; Elke Holinski-Feder; Deephthi Ashok; Ingelore Bässmann; Patrick F Chinnery
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Movement disorders : official journal of the Movement Disorder Society 2012;27(6):789-93.
2012: Teodora Chamova; Laura Florez; Velina Guergueltcheva; Luba Kalaydjieva; RAdka Kaneva; Hanns Lochmüller; Margarita Raycheva; Ivailo Tournev
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
Journal of neurology 2012;259(5):906-11.
2012: Christopher N J Young; Krzysztof Zabłocki; Stephen Arkle; Wojciech Brutkowski; Chun-Fu Lien; Hanns Lochmüller; Dariusz C Górecki
P2X7 purinoceptor alterations in dystrophic mdx mouse muscles: relationship to pathology and potential target for treatment.
Journal of cellular and molecular medicine 2012;16(5):1026-37.
2012: Ramakrishna Kurapati; Steve Laval; Emily LeProust; Johan Lindqvist; Hanns Lochmüller; Caoimhe McKenna; Julien Ochala; Michelle Simon; Debbie Williams; Jane Baker; Natalie Carroll; Michael Cheeseman; Paul Denny; Gonzalo Blanco
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Human molecular genetics 2012;21(8):1706-24.
2012: Amina Chaouch; Jaume Colomer; Marina Dusl; Velina Guergueltcheva; Christopher Lindberg; Angela Abicht; Zohar Argov; Nuria Muelas; Juliane S Müller; Andres Nascimento; Vidosava Rakocević-Stojanović; Ulrike Schara; Rosana H Scola; Juan J Vilchez; Lineu C Werneck; Hanns Lochmüller
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Journal of neurology 2012;259(3):474-81.
2011: Alasdair J Wood; Rita Barresi; Kate Bushby; Catherine D Jepson; Steven H Laval; Hanns Lochmüller; Juliane S Müller; Volker Straub
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Human molecular genetics 2011;20(24):4879-90.
2011: Chantal A Mutsaers; Simon H Parson; Markus Riessland; Julia Schreml; Kevin Talbot; Brunhilde Wirth; Thomas M Wishart; Laura H Comley; Douglas J Lamont; Hanns Lochmüller; Lyndsay M Murray; Thomas H Gillingwater
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
Human molecular genetics 2011;20(22):4334-44.
2011: Peter Reilich; Jens Reimann; Annette Schollen; Benedikt Schoser; Nicolai Schramm; Michael Trenell; Doug M Turnbull; Lesley Turner; Maggie C Walter; Gregor Witte; Birgit Czermin; Grainne S Gorman; Volkmar H Hans; Elke Holinski-Feder; Kieren G Hollingsworth; Rita Horvath; Sabine Krause; Andrée MacMillan; Hanns Lochmüller
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Journal of neurology 2011;258(11):1987-97.
2011: Anna Sarkozy; Christian Windpassinger; Rita Barresi; Kate Bushby; Richard Charlton; Charlotte F Dougan; Michelle Eagle; David Hilton-Jones; Judith Hudson; Bryan Lecky; Hanns Lochmüller; Volker Straub
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
European journal of human genetics : EJHG 2011;19(10):1038-44.
2011: Jana Ivanidze; Hanns Lochmüller; Andrew G Engel; Reinhard Hoffmann; Reinhard Hohlfeld; Klaus Dornmair
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibers.
The American journal of pathology 2011;179(3):1347-59.
2011: Nina Barišić; Amina Chaouch; Juliane S Müller; Hanns Lochmüller
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011;15(3):189-96.
2011: Emily Dick; Elena Matsa; Jayson Bispham; Mojgan Reza; Michela Guglieri; Andrew Staniforth; Sue Watson; Rajendra Kumari; Hanns Lochmüller; Lorraine Young; David Darling; Chris Denning
Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines.
Stem cell research 2011;6(2):158-67.
2011: Emanuela Colombo; Stefania Romaggi; Enzo Medico; Ramesh Menon; Marina Mora; Chiara Falcone; Hanns Lochmüller; Paolo Confalonieri; Renato Mantegazza; Lucia Morandi; Cinthia Farina
Human neurotrophin receptor p75NTR defines differentiation-oriented skeletal muscle precursor cells: implications for muscle regeneration.
Journal of neuropathology and experimental neurology 2011;70(2):133-42.
2011: Ulrike Schara; Jürgen-Christoph von Kleist-Retzow; Elke Lainka; Patrick Gerner; Angela Pyle; Paul M Smith; Hanns Lochmüller; Birgit Czermin; Angela Abicht; Elke Holinski-Feder; Rita Horvath
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
Journal of inherited metabolic disease 2011;34(1):197-201.
2011: Nancy Larochelle; Rolf Stucka; Norman Rieger; Lothar Schermelleh; Gudrun Schiedner; Stefan Kochanek; Eckhard Wolf; Hanns Lochmüller
Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes.
Transgenic research 2011;20(1):123-35.
2011: Janbernd Kirschner; Hanns Lochmüller
Sarcoglycanopathies.
Handbook of clinical neurology 2011;101():41-6.
2011: Louise H Jørgensen; Alison Blain; Elizabeth Greally; Steven H Laval; Andrew M Blamire; Benjamin J Davison; Heinrich Brinkmeier; Guy A MacGowan; Henrik D Schrøder; Kate Bushby; Volker Straub; Hanns Lochmüller
Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle.
The American journal of pathology 2011;178(1):273-83.
2011: Debbie Hicks; A Sarkozy; N Muelas; K Koehler; A Huebner; G Hudson; Patrick F Chinnery; R Barresi; Michelle Eagle; T Polvikoski; G Bailey; J Miller; A Radunovic; P J Hughes; R Roberts; S Krause; M C Walter; Steven H Laval; Volker Straub; Hanns Lochmüller; Kate Bushby
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Brain : a journal of neurology 2011;134(Pt 1):171-82.
2011: John P Kemp; Paul M Smith; Angela Pyle; Vivienne C M Neeve; Helen A L Tuppen; Ulrike Schara; Beril Talim; Haluk Topaloglu; Elke Holinski-Feder; Angela Abicht; Birgit Czermin; Hanns Lochmüller; Robert McFarland; Patrick F Chinnery; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Robert W Taylor; Rita Horvath
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Brain : a journal of neurology 2011;134(Pt 1):183-95.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: Anna Sarkozy; Hanns Lochmüller
Neuromuscular disorders and 2010: recent advances.
Journal of neurology 2010;257(12):2117-21.
2010: Jürgen Seeger; Bertold Schrank; Angela Pyle; Rolf Stucka; Ulrich Lörcher; Solvig Müller-Ziermann; Angela Abicht; Birgit Czermin; Elke Holinski-Feder; Hanns Lochmüller; Rita Horvath
Clinical and neuropathological findings in patients with TACO1 mutations.
Neuromuscular disorders : NMD 2010;20(11):720-4.
2010: Ralf Bauer; Alison Blain; Elizabeth Greally; Kate Bushby; Hanns Lochmüller; Steve Laval; Volker Straub; Guy A MacGowan
Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.
European journal of heart failure 2010;12(11):1163-70.
2010: V Mihaylova; R H Scola; B Gervini; P J Lorenzoni; C K Kay; L C Werneck; Rolf Stucka; V Guergueltcheva; M von der Hagen; Angela Huebner; A Abicht; J S Müller; Hanns Lochmüller
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Journal of neurology, neurosurgery, and psychiatry 2010;81(9):973-7.
2010: Maggie C Walter; Birgit Czermin; Solvig Muller-Ziermann; Stefanie Bulst; Joanna D Stewart; Gavin Hudson; Peter Schneiderat; Angela Abicht; Elke Holinski-Feder; Hanns Lochmüller; Patrick F Chinnery; Thomas Klopstock; Rita Horvath
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
Journal of neurology 2010;257(9):1517-23.
2010: Lars Klinge; Ahmed Aboumousa; Michelle Eagle; Judith Hudson; Anna Sarkozy; Gianluca Vita; Richard Charlton; Mark Roberts; Volker Straub; Rita Barresi; Hanns Lochmüller; Kate Bushby
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 2010;81(9):946-53.
2010: Myriam Srour; Véronique Bolduc; Velina Guergueltcheva; Hanns Lochmüller; Daniel Gendron; Michael I Shevell; Chantal Poulin; Jean Mathieu; Jean-Pierre Bouchard; Bernard Brais
DOK7 mutations presenting as a proximal myopathy in French Canadians.
Neuromuscular disorders : NMD 2010;20(7):453-7.
2010: Zagaa Odgerel; Anna Sarkozy; Hee-Suk Lee; Caoimhe McKenna; Julia Rankin; Volker Straub; Hanns Lochmüller; Francalanci Paola; Adele D'Amico; Enrico Bertini; Kate Bushby; Lev G Goldfarb
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Neuromuscular disorders : NMD 2010;20(7):438-42.
2010: Peter Reilich; Nicolai Schramm; Benedikt Schoser; Peter Schneiderat; Nicola Strigl-Pill; Josef Müller-Höcker; Wolfram Kress; Andreas Ferbert; Sabine Rudnik-Schöneborn; Johannes Noth; Hanns Lochmüller; Joachim Weis; Maggie C Walter
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
Journal of neurology 2010;257(7):1108-18.
2010: Ulrike Schara; Hans-Jürgen Christen; Hacer Durmus; Marja Hietala; Kerstin Krabetz; Carmelo Rodolico; Gudrun Schreiber; Haluk Topaloglu; Beril Talim; Wolfgang Voss; Helena Pihko; Angela Abicht; Juliane S Müller; Hanns Lochmüller
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(4):326-33.
2010: Andrea Stober; Angelo Aleo; Valerio Kuhl; Antje Bornemann; Maggie C Walter; Hanns Lochmüller; Alfred Lindner; Sabine Krause
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Neuromuscular disorders : NMD 2010;20(5):335-6.
2010: Claudia Escher; Hanns Lochmüller; Dirk Fischer; Stephan Frank; Jens Reimann; Maggie C Walter; Markus Ehrat; Markus A Ruegg; Daniel Gygax
Reverse protein arrays as novel approach for protein quantification in muscular dystrophies.
Neuromuscular disorders : NMD 2010;20(5):302-9.
2010: Juliane S Müller; Catherine D Jepson; Steven H Laval; Kate Bushby; Volker Straub; Hanns Lochmüller
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
Human molecular genetics 2010;19(9):1726-40.
2010: Johannes Levin; Stefanie Bulst; Christian Thirion; Felix Schmidt; Kai Bötzel; Sabine Krause; Cordula Pertl; Hans A Kretzschmar; Maggie C Walter; Armin Giese; Hanns Lochmüller
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
Journal of neuropathology and experimental neurology 2010;69(4):415-24.
2010: Lars Klinge; John Harris; Caroline Sewry; Richard Charlton; Louise Anderson; Steven H Laval; Yen-Hui Chiu; Mark Hornsey; Volker Straub; Rita Barresi; Hanns Lochmüller; Kate Bushby
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
Muscle & nerve 2010;41(2):166-73.
2010: Michaela Auer-Grumbach; Andrea Olschewski; Lea Papić; Hannie Kremer; Meriel E McEntagart; Sabine Uhrig; Carina Fischer; Eleonore Fröhlich; Zoltán Bálint; Bi Tang; Heimo Strohmaier; Hanns Lochmüller; Beate Schlotter-Weigel; Jan Senderek; Angelika Krebs; Katherine J Dick; Richard Petty; Cheryl Longman; Neil E Anderson; George W Padberg; Helenius J Schelhaas; Conny M A van Ravenswaaij-Arts; Thomas R Pieber; Andrew H Crosby; Christian Guelly
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nature genetics 2010;42(2):160-4.
2010: Hanns Lochmüller; Peter Schneiderat
Biobanking in rare disorders.
Advances in experimental medicine and biology 2010;686():105-13.
2010: Ralf Bauer; Alison Blain; Elizabeth Greally; Hanns Lochmüller; Kate Bushby; Guy A MacGowan; Volker Straub
Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism.
Neuromuscular disorders : NMD 2010;20(1):21-8.
2009: Rachel Thompson; Benedikt Schoser; Darren G Monckton; Karla Blonsky; Hanns Lochmüller
Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.
Neuromuscular disorders : NMD 2009;19(12):860-6.
2009: U Schara; N Barisic; M Deschauer; C Lindberg; Volker Straub; N Strigl-Pill; M Wendt; A Abicht; J S Müller; Hanns Lochmüller
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
Neuromuscular disorders : NMD 2009;19(12):828-32.
2009: Kate Bushby; Hanns Lochmüller; Stephen Lynn; Volker Straub
Interventions for muscular dystrophy: molecular medicines entering the clinic.
Lancet 2009;374(9704):1849-56.
2009: Rita Horvath; John P Kemp; Helen A L Tuppen; Gavin Hudson; Anders Oldfors; Suely K N Marie; Ali-Reza Moslemi; Serenella Servidei; Elisabeth Holme; Sara Shanske; Gittan Kollberg; Parul Jayakar; Angela Pyle; Harold M Marks; Elke Holinski-Feder; Mena Scavina; Maggie C Walter; Jorida Coku; Andrea Günther-Scholz; Paul M Smith; Robert McFarland; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Michio Hirano; Hanns Lochmüller; Robert W Taylor; Patrick F Chinnery; Mar Tulinius; Salvatore DiMauro
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
2009: Jean Giacomotto; Cordula Pertl; Caroline Borrel; Maggie C Walter; Stefanie Bulst; Bob Johnsen; David L Baillie; Hanns Lochmüller; Christian Thirion; Laurent Ségalat
Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.
Human molecular genetics 2009;18(21):4089-101.
2009: Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Human mutation 2009;30(9):1267-77.
2009: Kristian Borg; Rolf Stucka; Matthew Locke; Eva Melin; Gabrielle Ahlberg; Ursula Klutzny; Maja von der Hagen; Angela Huebner; Hanns Lochmüller; Klaus Wrogemann; Lars-Eric Thornell; Derek J Blake; Benedikt Schoser
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
Human mutation 2009;30(9):E831-44.
2009: Marta Onopiuk; Wojciech Brutkowski; Katarzyna Wierzbicka; Sylwia Wojciechowska; Joanna Szczepanowska; Jan Fronk; Hanns Lochmüller; Dariusz C Górecki; Krzysztof Zabłocki
Mutation in dystrophin-encoding gene affects energy metabolism in mouse myoblasts.
Biochemical and biophysical research communications 2009;386(3):463-6.
2009: Natalia Garcia-Angarita; Janbernd Kirschner; Mandy Heiliger; Christian Thirion; Maggie C Walter; Susanne Schnittfeld-Acarlioglu; Matthias Albrecht; Klaus Müller; Dagmar Wieczorek; Hanns Lochmüller; Sabine Krause
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
Neuromuscular disorders : NMD 2009;19(7):481-4.
2009: Woranontee Weraarpachai; Hana Antonicka; Florin Sasarman; Jürgen Seeger; Bertold Schrank; Jill E Kolesar; Hanns Lochmüller; Mario Chevrette; Brett A Kaufman; Rita Horvath; Eric A Shoubridge
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nature genetics 2009;41(7):833-7.
2009: Daniele Ghezzi; Paola Goffrini; Graziella Uziel; Rita Horvath; Thomas Klopstock; Hanns Lochmüller; Pio D'Adamo; Paolo Gasparini; Tim M Strom; Holger Prokisch; Federica Invernizzi; Ileana Ferrero; Massimo Zeviani
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Nature genetics 2009;41(6):654-6.
2009: Yen-Hui Chiu; Mark A Hornsey; Lars Klinge; Louise H Jørgensen; Steven H Laval; Richard Charlton; Rita Barresi; Volker Straub; Hanns Lochmüller; Kate Bushby
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Human molecular genetics 2009;18(11):1976-89.
2009: Louise H Jørgensen; Nancy Larochelle; Kristian Orlopp; Patrick Dunant; Roy W R Dudley; Rolf Stucka; Christian Thirion; Maggie C Walter; Steven H Laval; Hanns Lochmüller
Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy.
Human gene therapy 2009;20(6):641-50.
2009: Rita Horváth; Andreas Bender; Angela Abicht; Elke Holinski-Feder; Birgit Czermin; Tobias Trips; Peter Schneiderat; Hanns Lochmüller; Thomas Klopstock
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.
Journal of neurology 2009;256(5):810-5.
2009: Stefanie Bulst; Angela Abicht; Elke Holinski-Feder; Solvig Müller-Ziermann; Udo Koehler; Christian Thirion; Maggie C Walter; Joanna D Stewart; Patrick F Chinnery; Hanns Lochmüller; Rita Horvath
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Human molecular genetics 2009;18(9):1590-9.
2009: Anne Waschbisch; Sven G Meuth; Alexander M Herrmann; Barbara Wrobel; Nicholas Schwab; Hanns Lochmüller; Heinz Wiendl
Intercellular exchanges of membrane fragments (trogocytosis) between human muscle cells and immune cells: a potential mechanism for the modulation of muscular immune responses.
Journal of neuroimmunology 2009;209(1-2):131-8.
2009: Jan Senderek; Sean M Garvey; Michael Krieger; Velina Guergueltcheva; Andoni Urtizberea; Andreas Roos; Miriam Elbracht; Claudia Stendel; Ivailo Tournev; Violeta Mihailova; Howard Feit; Jeff Tramonte; Peter Hedera; Kristy Crooks; Carsten Bergmann; Sabine Rudnik-Schöneborn; Klaus Zerres; Hanns Lochmüller; Eric Seboun; Joachim Weis; Jacques Beckmann; Michael A Hauser; Charles E Jackson
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
American journal of human genetics 2009;84(4):511-8.
2009: Petr Brabec; Petr Vondrácek; Daniel Klimes; Sarah Baumeister; Hanns Lochmüller; Tomas Pavlik; Jakub Gregor
Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach.
Neuromuscular disorders : NMD 2009;19(4):250-4.
2009: Sarah K Baumeister; Slobodanka Todorovic; Vedrana Milić-Rasić; Gabriele Dekomien; Hanns Lochmüller; Maggie C Walter
Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.
Neuromuscular disorders : NMD 2009;19(2):167-71.
2009: Alisdair McNeill; Daniel Birchall; Volker Straub; Lev Goldfarb; Peter Reilich; Maggie C Walter; Nicolai Schramm; Hanns Lochmüller; Patrick F Chinnery
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
European neurology 2009;62(3):161-6.
2008: Anna Sárközy; Kate Bushby; Christophe Béroud; Hanns Lochmüller
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.
Neuromuscular disorders : NMD 2008;18(12):997-1001.
2008: Anne Waschbisch; Sabine Wintterle; Hanns Lochmüller; Maggie C Walter; Jörg Wischhusen; Bernd C Kieseier; Heinz Wiendl
Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions.
Arthritis and rheumatism 2008;58(11):3600-8.
2008: Ulrike Schara; Hanns Lochmüller
Therapeutic strategies in congenital myasthenic syndromes.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):542-7.
2008: Hanns Lochmüller; Robert C Griggs
New treatments for neuromuscular disease: optimism and obstacles.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):497-8.
2008: Michela Guglieri; Volker Straub; Kate Bushby; Hanns Lochmüller
Limb-girdle muscular dystrophies.
Current opinion in neurology 2008;21(5):576-84.
2008: Dieter Heuss; Janine Klascinski; Steffen W Schubert; Tehmur Moriabadi; Hanns Lochmüller; Said Hashemolhosseini
Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies.
Molecular and cellular biochemistry 2008;316(1-2):135-40.
2008: Nicholas Schwab; Anne Waschbisch; Barbara Wrobel; Hanns Lochmüller; Claudia Sommer; Heinz Wiendl
Human myoblasts modulate the function of antigen-presenting cells.
Journal of neuroimmunology 2008;200(1-2):62-70.
2008: Oliver J Müller; Hanns Lochmüller
Sarcoglycans take center stage in gene transfer therapy.
Neurology 2008;71(4):234-5.
2008: Katharina Strach; Torsten Sommer; Christian Grohé; Carsten Meyer; Dirk Fischer; Maggie C Walter; Matthias Vorgerd; Peter Reilich; Harald Bär; Jens Reimann; Ulrike Reuner; Alfried Germing; Hans-Hilmar Goebel; Hanns Lochmüller; Bernd Wintersperger; Rolf Schröder
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Neuromuscular disorders : NMD 2008;18(6):475-82.
2008: Paul Thornhill; David Bassett; Hanns Lochmüller; Kate Bushby; Volker Straub
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
Brain : a journal of neurology 2008;131(Pt 6):1551-61.
2008: Lars Klinge; A F Dean; W Kress; P Dixon; R Charlton; J S Müller; Louise V B Anderson; Volker Straub; Rita Barresi; Hanns Lochmüller; Kate Bushby
Late onset in dysferlinopathy widens the clinical spectrum.
Neuromuscular disorders : NMD 2008;18(4):288-90.
2008: D Hicks; Anne Lampe; Rita Barresi; R Charlton; C Fiorillo; Carsten Bonnemann; J Hudson; R Sutton; Hanns Lochmüller; Volker Straub; Kate Bushby
A refined diagnostic algorithm for Bethlem myopathy.
Neurology 2008;70(14):1192-9.
2008: Violeta Mihaylova; Juliane S Müller; Juan J Vilchez; Mustafa A Salih; Mohammad M Kabiraj; Adele D'Amico; Enrico Bertini; Joachim Wölfle; Felix Schreiner; Gerhard Kurlemann; Vedrana Milic Rasic; Dana Siskova; Jaume Colomer; Agnes Herczegfalvi; Katarina Fabriciova; Bernhard Weschke; Rosana Scola; Friederike Hoellen; Ulrike Schara; Angela Abicht; Hanns Lochmüller
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Brain : a journal of neurology 2008;131(Pt 3):747-59.
2008: Verena Wally; Alfred Klausegger; Ulrich Koller; Hanns Lochmüller; Sabine Krause; Gerhard Wiche; Lloyd G Mitchell; Helmut Hintner; Johann W Bauer
5' trans-splicing repair of the PLEC1 gene.
The Journal of investigative dermatology 2008;128(3):568-74.
2008: Christian Windpassinger; Benedikt Schoser; Volker Straub; Sonja Hochmeister; Abdul Noor; Birgit Lohberger; Natalie Farra; Erwin Petek; Thomas Schwarzbraun; Lisa Ofner; Wolfgang N Löscher; Klaus Wagner; Hanns Lochmüller; John B Vincent; Stefan Quasthoff
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
American journal of human genetics 2008;82(1):88-99.
2007: Barbara Rohkamm; Mary M Reilly; Hanns Lochmüller; Beate Schlotter-Weigel; Nina Barisic; Ludger Schöls; Garth Nicholson; Davide Pareyson; Matilde Laurà; Andreas R Janecke; Gabriel Miltenberger-Miltenyi; Elisabeth John; Carina Fischer; Franz Grill; William Wakeling; Mary Davis; Thomas R Pieber; Michaela Auer-Grumbach
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Journal of the neurological sciences 2007;263(1-2):100-6.
2007: Rudolf A Kley; Yorck Hellenbroich; Peter F.M. van der Ven; Dieter O Fürst; Angela Huebner; Vera Bruchertseifer; Soeren A Peters; Christoph Heyer; Janbernd Kirschner; Rolf Schröder; Dirk Fischer; Klaus Müller; Karen Tolksdorf; Katharina Eger; Alfried Germing; Turgut Brodherr; Conny Reum; Maggie C Walter; Hanns Lochmüller; Uwe-Peter Ketelsen; Matthias Vorgerd
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Brain : a journal of neurology 2007;130(Pt 12):3250-64.
2007: Hanns Lochmüller; V Straub
[MD-NET--muscular dystrophy network].
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2007;50(12):1518-23.
2007: Ute Hehr; Gökhan Uyanik; Claudia Gross; Maggie C Walter; Axel Bohring; Monika Cohen; Barbara Oehl-Jaschkowitz; Lynne M Bird; Ghiat M Shamdeen; Ulrich Bogdahn; Gerhard Schuierer; Haluk Topaloglu; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics 2007;8(4):279-88.
2007: Johan A Aarli; Amadou Gallo Diop; Hanns Lochmüller
Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology.
Neurology 2007;69(17):1715-8.
2007: Wolfgang Müller-Felber; Rita Horvath; Klaus Gempel; Teodor Podskarbi; Yoon Shin; Dieter Pongratz; Maggie C Walter; Martina Baethmann; Beate Schlotter-Weigel; Hanns Lochmüller; Benedikt Schoser
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Neuromuscular disorders : NMD 2007;17(9-10):698-706.
2007: Benedikt Schoser; Josef Müller-Höcker; Rita Horvath; Klaus Gempel; Dieter Pongratz; Hanns Lochmüller; Wolfgang Müller-Felber
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Neuropathology and applied neurobiology 2007;33(5):544-59.
2007: Sabine Krause; T Göhringer; Maggie C Walter; Benedikt Schoser; Peter Reilich; Jennifer Linn; Gabriele Pöpperl; Lutz Froelich; Frank Hentschel; Hanns Lochmüller; Adrian Danek
Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.
Clinical neuropathology 2007;26(5):232-40.
2007: Sabine Krause; A Aleo; Stephan Hinderlich; Luciano Merlini; I Tournev; Maggie C Walter; Zohar Argov; Stella Mitrani-Rosenbaum; Hanns Lochmüller
GNE protein expression and subcellular distribution are unaltered in HIBM.
Neurology 2007;69(7):655-9.
2007: Klaus Gempel; Haluk Topaloglu; Beril Talim; Peter Schneiderat; Benedikt Schoser; Volkmar H Hans; Beatrix Pálmafy; Gülsev Kale; Aysegul Tokatli; Catarina M Quinzii; Michio Hirano; Ali Naini; Salvatore DiMauro; Holger Prokisch; Hanns Lochmüller; Rita Horvath
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Brain : a journal of neurology 2007;130(Pt 8):2037-44.
2007: Christian Thirion; Hanns Lochmüller
Current status of gene therapy for muscle diseases.
Drug news & perspectives 2007;20(6):357-63.
2007: Maggie C Walter; Peter Reilich; Angela Huebner; Dirk Fischer; Rolf Schröder; Matthias Vorgerd; Wolfram Kress; Christine Born; Benedikt Schoser; K H Krause; U Klutzny; S Bulst; J R Frey; Hanns Lochmüller
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Brain : a journal of neurology 2007;130(Pt 6):1485-96.
2007: Juliane S Müller; Agnes Herczegfalvi; Juan J Vilchez; Jaume Colomer; Linda L Bachinski; Violeta Mihaylova; Manuela Santos; Ulrike Schara; Marcus Deschauer; Michael Shevell; Chantal Poulin; Ana Dias; Ana Soudo; Marja Hietala; Tuula Aärimaa; Ralf Krahe; Veronika Karcagi; Angela Huebner; David Beeson; Angela Abicht; Hanns Lochmüller
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Brain : a journal of neurology 2007;130(Pt 6):1497-506.
2007: Hanns Lochmüller; Manfred Wehnert
What message does the nuclear envelope hold?
Neurology 2007;68(22):1879-80.
2007: Philipp Christoph Janiesch; Johnny Kim; Julien Mouysset; Roja Barikbin; Hanns Lochmüller; giuseppe cassata; Sabine Krause; Thorsten Hoppe
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy.
Nature cell biology 2007;9(4):379-90.
2007: Sarina Meinen; Patrizia Barzaghi; Shuo Lin; Hanns Lochmüller; Markus A Ruegg
Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages.
The Journal of cell biology 2007;176(7):979-93.
2007: Johannes A Mayr; Olaf Merkel; Sepp D Kohlwein; Boris R Gebhardt; Hansjosef Böhles; Ulrike Fötschl; Johannes Koch; Michaela Jaksch; Hanns Lochmüller; Rita Horváth; Peter Freisinger; Wolfgang Sperl
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
American journal of human genetics 2007;80(3):478-84.
2007: Nina Barisić; Jasminka Jakić-Razumović; Miroslav Harjacek; Marina Fanin; Hanns Lochmüller; Ivan Lehman; Corrado Angelini
Childhood dermatomyositis associated with intracranial tumor and liver cysts.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(2):76-80.
2007: Astrid Milic; Nathalie Daniele; Hanns Lochmüller; Marina Mora; Giacomo P Comi; Maurizio Moggio; Fanny Noulet; Maggie C Walter; Lucia Morandi; Jérôme Poupiot; Carinne Roudaut; Reginald E Bittner; Marc Bartoli; Isabelle Richard
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
Neuromuscular disorders : NMD 2007;17(2):148-56.
2007: Christian U Hübbers; Christoph S Clemen; Kristina Kesper; Annett Böddrich; Andreas Hofmann; Outi Kämäräinen; Karen Tolksdorf; Maria Stumpf; Julia Reichelt; Udo Roth; Sabine Krause; Giles Watts; Virginia E Kimonis; Mike P Wattjes; Jens Reimann; Dietmar R Thal; Katharina Biermann; Bernd Evert; Hanns Lochmüller; Erich E Wanker; Benedikt Schoser; Angelika A Noegel; Rolf Schröder
Pathological consequences of VCP mutations on human striated muscle.
Brain : a journal of neurology 2007;130(Pt 2):381-93.
2007: Rita Horvath; Rudolf A Kley; Hanns Lochmüller; Matthias Vorgerd
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
Neurology 2007;68(1):56-8.
2007: Juliane S Müller; Violeta Mihaylova; Angela Abicht; Hanns Lochmüller
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Expert reviews in molecular medicine 2007;9(22):1-20.
2006: Juliane S Müller; Sarah K Baumeister; V M Rasic; Sabine Krause; S Todorovic; K Kugler; Wolfgang Müller-Felber; Angela Abicht; Hanns Lochmüller
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Neurology 2006;67(7):1159-64.
2006: Peter Reilich; J A Petersen; S Vielhaber; C Mawrin; Christiane Schneider-Gold; Claudia Sommer; K Reiners; Marcus Deschauer; Dieter Pongratz; Hanns Lochmüller; Maggie C Walter
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2006;25(2):73-6.
2006: William Wallefeld; Sabine Krause; Kristen J Nowak; Danielle E Dye; Rita Horváth; Zoltán Molnár; Miklós Szabó; Kazuhiro Hashimoto; Cristina Reina; Jose De Carlos; Jordi Rosell; Ana Cabello; Carmen Navarro; Ichizo Nishino; Hanns Lochmüller; Nigel G Laing
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Neuromuscular disorders : NMD 2006;16(9-10):541-7.
2006: Juliane S Müller; Sarah K Baumeister; Ulrike Schara; Judy Cossins; Sabine Krause; Maja von der Hagen; Angela Huebner; Richard Webster; David Beeson; Hanns Lochmüller; Angela Abicht
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Brain : a journal of neurology 2006;129(Pt 10):2784-93.
2006: David Beeson; Osamu Higuchi; Jacqueline Palace; Judy Cossins; Hayley Spearman; Susan Maxwell; John Newsom-Davis; Georgina Burke; Peter R W Fawcett; Masakatsu Motomura; Juliane S Müller; Hanns Lochmüller; Clarke Slater; Angela Vincent; Yuji Yamanashi
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Science (New York, N.Y.) 2006;313(5795):1975-8.
2006: Katrin Hoffmann; Juliane S Muller; Sigmar Stricker; André Megarbane; Anna Rajab; Tom H Lindner; Monika Cohen; Eliane Chouery; Lynn Adaimy; Ismat Ghanem; Valérie Delague; Eugen Boltshauser; Beril Talim; Rita Horvath; Peter Robinson; Hanns Lochmüller; Christoph Hübner; Stefan Mundlos
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
American journal of human genetics 2006;79(2):303-12.
2006: Juliane S Müller; Henriett Piko; Benedikt Schoser; Beate Schlotter-Weigel; Peter Reilich; Stefanie Gürster; Christine Born; Veronika Karcagi; Dieter Pongratz; Hanns Lochmüller; Maggie C Walter
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(7):432-6.
2006: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; René Santer; Marketa Tesarova; Jirí Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
2006: Jaume Colomer; Juliane S Müller; AM Vernet; A Nascimento; Martí Pons; V Gonzalez; Angela Abicht; Hanns Lochmüller
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine.
Neuromuscular disorders : NMD 2006;16(5):329-33.
2006: Christian Thirion; Hanns Lochmüller; Zsolt Ruzsics; Marc Boelhauve; Cornelia König; Cornelia Thedieck; Stephan Kutik; Christiane Geiger; Stefan Kochanek; Christoph Volpers; Hans-Gerhard Burgert
Adenovirus vectors based on human adenovirus type 19a have high potential for human muscle-directed gene therapy.
Human gene therapy 2006;17(2):193-205.
2006: Anja Schroers; Rudolf A Kley; Axel Stachon; Rita Horvath; Hanns Lochmüller; Jochen Zange; Matthias Vorgerd
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency.
Neurology 2006;66(2):285-6.
2006: Rita Horvath; Peter Schneiderat; Benedikt Schoser; Klaus Gempel; E Neuen-Jacob; H Plöger; Josef Müller-Höcker; Dieter Pongratz; Ali Naini; Salvatore DiMauro; Hanns Lochmüller
Coenzyme Q10 deficiency and isolated myopathy.
Neurology 2006;66(2):253-5.
2006: Maja von der Hagen; J Schallner; Angela M Kaindl; K Koehler; P Mitzscherling; Angela Abicht; U Grieben; R Korinthenberg; Wolfram Kress; Arpad von Moers; Juliane S Müller; Ulrike Schara; Matthias Vorgerd; Maggie C Walter; C Müller-Reible; Christoph Hübner; Hanns Lochmüller; Angela Huebner
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.
Neuromuscular disorders : NMD 2006;16(1):4-13.
2006: Rita Horváth; Angela Abicht; Elke Holinski-Feder; A Laner; Klaus Gempel; Holger Prokisch; Hanns Lochmüller; Thomas Klopstock; Michaela Jaksch
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
Journal of neurology, neurosurgery, and psychiatry 2006;77(1):74-6.
2006: Bettina Schreiner; Joachim Voss; Jörg Wischhusen; Yvonne Dombrowski; Alexander Steinle; Hanns Lochmüller; Marinos C Dalakas; Arthur Melms; Heinz Wiendl
Expression of toll-like receptors by human muscle cells in vitro and in vivo: TLR3 is highly expressed in inflammatory and HIV myopathies, mediates IL-8 release and up-regulation of NKG2D-ligands.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006;20(1):118-20.
2005: Rita Horváth; Benedikt Schoser; Josef Müller-Höcker; M Völpel; Michaela Jaksch; Hanns Lochmüller
Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
Neuromuscular disorders : NMD 2005;15(12):851-7.
2005: Jan Senderek; Michael Krieger; Claudia Stendel; Carsten Bergmann; Markus Moser; Nico Breitbach-Faller; Sabine Rudnik-Schöneborn; Astrid Blaschek; Nicole I Wolf; Inga Harting; Kathryn North; Janine Smith; Francesco Muntoni; Martin Brockington; Susana Quijano-Roy; Francis Renault; Ralf Herrmann; Linda M Hendershot; J Michael Schröder; Hanns Lochmüller; Haluk Topaloglu; Thomas Voit; Joachim Weis; Friedrich Ebinger; Klaus Zerres
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Marc Bitoun; Svetlana Maugenre; Pierre-Yves Jeannet; Emmanuelle Lacène; Xavier Ferrer; Pascal Laforêt; Jean-Jacques Martin; Jocelyn Laporte; Hanns Lochmüller; Alan H Beggs; Michel Fardeau; Bruno Eymard; Norma B Romero; Pascale Guicheney
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics 2005;37(11):1207-9.
2005: Juliane S Müller; Rolf Stucka; S Neudecker; S Zierz; Carolin Schmidt; Angela Huebner; Hanns Lochmüller; Angela Abicht
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
Neurology 2005;65(3):463-5.
2005: Verena Busch; Klaus Gempel; Alexandra Hack; Klaus Müller; Matthias Vorgerd; Hanns Lochmüller; F A M Baumeister
Treatment of glycogenosis type V with ketogenic diet.
Annals of neurology 2005;58(2):341.
2005: Dagmar Brummer; Maggie C Walter; M Palmbach; Ursula I Knirsch; Jochen Karitzky; R Tomczak; C Braun; N Grundhoff; A Bornemann; Clemens R Müller; Hanns Lochmüller; Herbert Schreiber
Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(1):6-16.
2005: P Soltanzadeh; Juliane S Müller; A Ghorbani; Angela Abicht; Hanns Lochmüller; Akbar Soltanzadeh
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
Journal of neurology, neurosurgery, and psychiatry 2005;76(7):1039-40.
2005: David Beeson; Daniel Hantaï; Hanns Lochmüller; Andrew G Engel
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Neuromuscular disorders : NMD 2005;15(7):498-512.
2005: Dirk Fischer; Maggie C Walter; Kristina Kesper; Jens A Petersen; Stefania Aurino; Vincenzo Nigro; Christian Kubisch; Thomas Meindl; Hanns Lochmüller; Kai Wilhelm; Horst Urbach; Rolf Schröder
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Journal of neurology 2005;252(5):538-47.
2005: Benedikt Schoser; Patrick Frosk; Andrew G Engel; Ursula Klutzny; Hanns Lochmüller; Klaus Wrogemann
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
Annals of neurology 2005;57(4):591-5.
2005: Sabine Krause; Stephan Hinderlich; Shira Amsili; Rüdiger Horstkorte; Heinz Wiendl; Zohar Argov; Stella Mitrani-Rosenbaum; Hanns Lochmüller
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.
Experimental cell research 2005;304(2):365-79.
2005: Michaela Auer-Grumbach; Beate Schlotter-Weigel; Hanns Lochmüller; Gertrud Strobl-Wildemann; Piet Auer-Grumbach; Renate Fischer; Hans Offenbacher; Ernst Bernhard Zwick; Tanja Robl; Gerald Hartl; Hans-Peter Hartung; Klaus Wagner; Christian Windpassinger
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Annals of neurology 2005;57(3):415-24.
2005: Rita Horváth; Maggie C Walter; Hanns Lochmüller; Angela Hübner; Veronika Karcagi; Henriett Pikó; László Timár; Sámuel Komoly
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].
Ideggyógyászati szemle 2005;58(1-2):52-8.
2005: Nina Barisic; Juliane S Müller; E Paucic-Kirincic; M Gazdik; K Lah-Tomulic; A Pertl; Jadranka Sertic; N Zurak; Hanns Lochmüller; Angela Abicht
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2005;9(1):7-12.
2005: Luba Kalaydjieva; Hanns Lochmüller; Ivailo Tournev; Frank Baas; Judit Beres; Jaume Colomer; Velina Guergueltcheva; Ralf Herrmann; Veronika Karcagi; Rosalind King; Toshiyuki Miyata; Andrea Müllner-Eidenböck; Tomohiko Okuda; Vedrana Milic-Rasic; Manuela Santos; Beril Talim; Juan Vilchez; Maggie Walter; Andoni Urtizberea; Luciano Merlini
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(1):65-71.
2005: Maggie C Walter; Thomas N Witt; Beate Schlotter Weigel; Peter Reilich; Pascale Richard; Dieter Pongratz; Gisèle Bonne; Manfred Wehnert; Hanns Lochmüller
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD 2005;15(1):40-4.
2005: Stefanie Endesfelder; Alexander Kliche; Hanns Lochmüller; Arpad von Moers; Astrid Speer
Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts.
Journal of molecular medicine (Berlin, Germany) 2005;83(1):64-71.
2004: Angela M Kaindl; Franz Rüschendorf; S Krause; H-H Goebel; K Koehler; C Becker; D Pongratz; J Müller-Höcker; Peter Nürnberg; G Stoltenburg-Didinger; Hanns Lochmüller; Angela Huebner
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Journal of medical genetics 2004;41(11):842-8.
2004: Juliane S Müller; Angela Abicht; Hans-Jürgen Christen; Rolf Stucka; Ulrike Schara; Wilhelm Mortier; Angela Huebner; Hanns Lochmüller
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
Neuromuscular disorders : NMD 2004;14(11):744-9.
2004: Patrick F Chinnery; Salvatore DiMauro; Sara Shanske; Eric A Schon; Massimo Zeviani; Caterina Mariotti; Franco Carrara; Anne Lombes; Pascal Laforet; Helène Ogier; Michaela Jaksch; Hanns Lochmüller; Rita Horvath; Marcus Deschauer; David R Thorburn; Laurence A Bindoff; Joanna Poulton; Robert W Taylor; J N S Matthews; Douglass M Turnbull
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Juliane S Müller; Angela Abicht; Georgina Burke; Judy Cossins; Pascale Richard; Sarah K Baumeister; Rolf Stucka; Bruno Eymard; Daniel Hantaï; David Beeson; Hanns Lochmüller
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Journal of medical genetics 2004;41(8):e104.
2004: Benedikt Schoser; Wolfram Kress; Maggie C Walter; Birgit Halliger-Keller; Hanns Lochmüller; Kenneth Ricker
Homozygosity for CCTG mutation in myotonic dystrophy type 2.
Brain : a journal of neurology 2004;127(Pt 8):1868-77.
2004: Andrea Müllner-Eidenböck; Elisabeth Moser; Nina Klebermass; Michael Amon; Maggie C Walter; Hanns Lochmüller; Rebecca Gooding; Luba Kalaydjieva
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Ophthalmology 2004;111(7):1415-23.
2004: Juliane S Müller; Sofia Petrova; R Kiefer; Rolf Stucka; C König; Sarah K Baumeister; Angela Huebner; Hanns Lochmüller; Angela Abicht
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Neuropediatrics 2004;35(3):183-9.
2004: Rita Horváth; Hanns Lochmüller; M Hoeltzenbein; Josef Müller-Höcker; Benedikt Schoser; Dieter Pongratz; Michaela Jaksch
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
Journal of medical genetics 2004;41(6):e75.
2004: Maggie C Walter; G Dekomien; Beate Schlotter-Weigel; Peter Reilich; Dieter Pongratz; Wolfgang Müller-Felber; Jörg T Epplen; Angela Huebner; Hanns Lochmüller
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2004;23(1):1-5.
2004: Maggie C Walter; J A Petersen; Rolf Stucka; Dirk Fischer; Rolf Schröder; Matthias Vorgerd; Anja Schroers; Herbert Schreiber; C Oliver Hanemann; Ursula I Knirsch; Angela Rosenbohm; Angela Huebner; Nina Barisic; Rita Horvath; Sámuel Komoly; Peter Reilich; Wolfgang Müller-Felber; Dieter Pongratz; Juliane S Müller; Ennes A Auerswald; Hanns Lochmüller
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Journal of medical genetics 2004;41(4):e50.
2004: Benedikt Schoser; Christiane Schneider-Gold; Wolfram Kress; Hans-Hilmar Goebel; Peter Reilich; Manuela C Koch; Dieter Pongratz; Klaus V Toyka; Hanns Lochmüller; Kenneth Ricker
Muscle pathology in 57 patients with myotonic dystrophy type 2.
Muscle & nerve 2004;29(2):275-81.
2003: Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzki; Enrico Bertini; Kate Bushby; Francesco Muntoni; Robert Ouvrier; Lionel Van Maldergem; Nathalie Goemans; Hanns Lochmüller; Stephan Eichholz; Coleen Adams; Friedrich Bosch; Padraic Grattan-Smith; Carmen Navarro; Heidemarie Neitzel; Tilman Polster; Haluk Topaloğlu; Christina Steglich; Ulf P Guenther; Klaus Zerres; Sabine Rudnik-Schöneborn; Christoph Hübner
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Annals of neurology 2003;54(6):719-24.
2003: Sabine Krause; Beate Schlotter-Weigel; Maggie C Walter; Hossein Najmabadi; Heinz Wiendl; Josef Müller-Höcker; Wolfgang Müller-Felber; Dieter Pongratz; Hanns Lochmüller
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
Neuromuscular disorders : NMD 2003;13(10):830-4.
2003: Maggie C Walter; Christian Braun; Matthias Vorgerd; Maja Poppe; Christian Thirion; Carolin Schmidt; Herbert Schreiber; Ursula I Knirsch; Dagmar Brummer; Wolfgang Müller-Felber; Dieter Pongratz; Josef Müller-Höcker; Angela Huebner; Hanns Lochmüller
Variable reduction of caveolin-3 in patients with LGMD2B/MM.
Journal of neurology 2003;250(12):1431-8.
2003: Johannes B Lampe; Gudrun Gossrau; Andrea Kempe; Monika Füssel; Katja Schwurack; Rolf Schröder; Sabine Krause; Ralf Kohnen; Maggie C Walter; Heinz Reichmann; Hanns Lochmüller
Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.
Journal of neurology 2003;250(11):1313-7.
2003: A Todorova; Birgit Halliger-Keller; Maggie C Walter; Marie-Christine Dabauvalle; Hanns Lochmüller; Clemens R Müller
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
Journal of medical genetics 2003;40(10):e115.
2003: Rita Horváth; Hanns Lochmüller; Curt Scharfe; Bao Do; P J Oefner; Josef Müller-Höcker; Benedikt Schoser; Dieter Pongratz; D P Auer; Michaela Jaksch
A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.
Journal of medical genetics 2003;40(10):752-7.
2003: Raymonda Varon; Rebecca Gooding; Christina Steglich; Lorna Marns; Hua Tang; Dora Angelicheva; Kiau Kiun Yong; Petra Ambrugger; Anke Reinhold; Bharti Morar; Frank Baas; Marcel Kwa; Ivailo Tournev; Velina Guerguelcheva; Ivo Kremensky; Hanns Lochmüller; Andrea Müllner-Eidenböck; Luciano Merlini; Luitgard Neumann; Joachim Bürger; Maggie Walter; Kathryn Swoboda; PK Thomas; Arpad von Moers; Neil Risch; Luba Kalaydjieva
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nature genetics 2003;35(2):185-9.
2003: Heinz Wiendl; Meike Mitsdoerffer; Dagmar Schneider; Lieping Chen; Hanns Lochmüller; Arthur Melms; Michael Weller
Human muscle cells express a B7-related molecule, B7-H1, with strong negative immune regulatory potential: a novel mechanism of counterbalancing the immune attack in idiopathic inflammatory myopathies.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003;17(13):1892-4.
2003: Michael Hunter; Rafaëlle Bernard; Elizabeth M Freitas; Amandine Boyer; Bharti Morar; Ian J Martins; Ivailo Tournev; Albena Jordanova; Velina Guergelcheva; Boryana Ishpekova; Ivo Kremensky; Garth Nicholson; Beate Schlotter; Hanns Lochmüller; Thomas Voit; Jaume Colomer; PK Thomas; Nicolas Levy; Luba Kalaydjieva
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Human mutation 2003;22(2):129-35.
2003: Patrick Dunant; Nancy Larochelle; Christian Thirion; Rolf Stucka; Daniel Ursu; Basil J Petrof; Eckhard Wolf; Hanns Lochmüller
Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;8(1):80-9.
2003: Juliane S Müller; G Mildner; Wolfgang Müller-Felber; Ulrike Schara; Klaus Krampfl; B Petersen; Sofia Petrova; Rolf Stucka; Wilhelm Mortier; Johannes Bufler; G Kurlemann; Angela Huebner; Luciano Merlini; Hanns Lochmüller; Angela Abicht
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Neurology 2003;60(11):1805-10.
2003: Maggie C Walter; Hanns Lochmüller; Beate Schlotter-Weigel; Thomas Meindl; Wolfgang Müller-Felber
Successful treatment of muscle sarcoidosis with thalidomide.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2003;22(1):22-5.
2003: Heinz Wiendl; Alfred Lautwein; Meike Mitsdörffer; Sabine Krause; Stella Eugenie Autenrieth; Wolfgang Wienhold; Matthias Morgalla; Ekkehard Weber; Herman S Overkleeft; Hanns Lochmüller; Arthur Melms; Eva Tolosa; Christoph Driessen
Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies.
Journal of neuroimmunology 2003;138(1-2):132-43.
2003: Patrick Dunant; Maggie C Walter; George Karpati; Hanns Lochmüller
Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle.
Muscle & nerve 2003;27(5):624-7.
2003: Christian Kubisch; Benedikt Schoser; Monika von Düring; Regina C Betz; Hans-Hilmar Goebel; Susanne Zahn; Antje Ehrbrecht; Jan Aasly; Anja Schroers; Nikola Popovic; Hanns Lochmüller; J Michael Schröder; Thomas Brüning; Jean-Pierre Malin; Britta Fricke; Hans-Michael Meinck; Torberg Torbergsen; Hartmut Engels; Bruno Voss; Matthias Vorgerd
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Annals of neurology 2003;53(4):512-20.
2003: Carolin Schmidt; Angela Abicht; Klaus Krampfl; Wolfgang Voss; Rolf Stucka; Gina Mildner; Sofia Petrova; Ulrike Schara; Wilhelm Mortier; Johannes Bufler; Angela Huebner; Hanns Lochmüller
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Neuromuscular disorders : NMD 2003;13(3):245-51.
2003: Christoph Volpers; Christian Thirion; Volker Biermann; Stefanie Hussmann; Helmut Kewes; Patrick Dunant; Helga von der Mark; Andreas Herrmann; Stefan Kochanek; Hanns Lochmüller
Antibody-mediated targeting of an adenovirus vector modified to contain a synthetic immunoglobulin g-binding domain in the capsid.
Journal of virology 2003;77(3):2093-104.
2002: Angela Abicht; Hanns Lochmüller
What's in the serum of seronegative MG and LEMS?: MuSK et al.
Neurology 2002;59(11):1672-3.
2002: Maggie C Walter; Peter Reilich; Hanns Lochmüller; Ralph Kohnen; Beate Schlotter; Hubert Hautmann; Elmar Dunkl; Dieter Pongratz; Wolfgang Müller-Felber
Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study.
Journal of neurology 2002;249(12):1717-22.
2002: Hayley J Durling; Peter Reilich; J Müller-Höcker; B Mendel; Dieter Pongratz; Carina Wallgren-Pettersson; Peter W Gunning; Hanns Lochmüller; Nigel G Laing
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
Neuromuscular disorders : NMD 2002;12(10):947-51.
2002: Rita Horváth; Curt Scharfe; M Hoeltzenbein; Bao Do; C Schröder; Rolf Warzok; Silke Vogelgesang; Hanns Lochmüller; Josef Müller-Höcker; Klaus-Dieter Gerbitz; P J Oefner; Michaela Jaksch
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
Journal of medical genetics 2002;39(11):812-6.
2002: Nina Barisic; Carolin Schmidt; OP Sidorova; Agnes Herczegfalvi; BM Gekht; In-Ho Song; Rolf Stucka; Veronika Karcagi; Angela Abicht; Hanns Lochmüller
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
Neuropediatrics 2002;33(5):249-54.
2002: Christian Thirion; Nancy Larochelle; Christoph Volpers; Patrick Dunant; Rolf Stucka; Paul Holland; Josephine Nalbantoglu; Stefan Kochanek; Hanns Lochmüller
Strategies for muscle-specific targeting of adenoviral gene transfer vectors.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S30-9.
2002: Klaus-Henning Krause; Stefan Dresel; Johanna Krause; Hank F Kung; Klaus Tatsch; Hanns Lochmüller
Elevated striatal dopamine transporter in a drug naive patient with Tourette syndrome and attention deficit/ hyperactivity disorder: positive effect of methylphenidate.
Journal of neurology 2002;249(8):1116-8.
2002: Manfred Gross; E Rötzer; P Kölle; Wilhelm Mortier; Heinz Reichmann; Hans-Hilmar Goebel; Hanns Lochmüller; Dieter Pongratz; Donna K Mahnke-Zizelman; Richard L Sabina
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
Neuromuscular disorders : NMD 2002;12(6):558-65.
2002: Angela Abicht; Rolf Stucka; Carolin Schmidt; Alexandre Briguet; Stefan Höpfner; In-Ho Song; Dieter Pongratz; Wolfgang Müller-Felber; Markus A Ruegg; Hanns Lochmüller
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
Brain : a journal of neurology 2002;125(Pt 5):1005-13.
2002: Luciano Merlini; Rebecca Gooding; Hanns Lochmüller; Wolfgang Müller-Felber; Maggie C Walter; Dora Angelicheva; Beril Talim; Joachim Hallmayer; Luba Kalaydjieva
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology 2002;58(2):231-6.
2001: Michaela Jaksch; Claudia Paret; Rolf Stucka; N Horn; Josef Müller-Höcker; Rita Horvath; N Trepesch; G Stecker; Peter Freisinger; Christian Thirion; J Müller; R Lunkwitz; Gerhard Rödel; Eric A Shoubridge; Hanns Lochmüller
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
Human molecular genetics 2001;10(26):3025-35.
2001: J Moll; Patrizia Barzaghi; Shuo Lin; Gabriela Bezakova; Hanns Lochmüller; Eva Engvall; Ulrich Müller; Markus A Ruegg
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.
Nature 2001;413(6853):302-7.
2001: J Lampe; Gudrun Gossrau; Heinz Reichmann; Maggie C Walter; B Mendel; Hanns Lochmüller
Prion codon 129 homozygosity and sporadic inclusion body myositis.
Neurology 2001;57(2):368.
2001: Christian Thirion; Rolf Stucka; B Mendel; A Gruhler; Michaela Jaksch; Kristen J Nowak; N Binz; Nigel G Laing; Hanns Lochmüller
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.
European journal of biochemistry / FEBS 2001;268(12):3473-82.
2001: Maggie C Walter; Hanns Lochmüller
Novel approaches to treat muscular dystrophies.
Expert opinion on investigational drugs 2001;10(4):695-707.
2001: Maggie C Walter; Hanns Lochmüller; Beate Schlotter; Peter Reilich; Wolfgang Müller-Felber; Dieter Pongratz
[New insights in pathogenesis and therapy of sporadic inclusion body myositis (s-IBM)].
Der Nervenarzt 2001;72(2):117-21.
2000: J Müller-Höcker; S Schäfer; B Mendel; Hanns Lochmüller; Dieter Pongratz
Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.
Ultrastructural pathology 2000;24(6):407-16.
2000: Angela Abicht; Hanns Lochmüller
Technology evaluation: edrecolomab, Centocor Inc.
Current opinion in molecular therapeutics 2000;2(5):593-600.
2000: Rita Horvath; Hanns Lochmüller; Rolf Stucka; J Yao; Eric A Shoubridge; S H Kim; Klaus-Dieter Gerbitz; Michaela Jaksch
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
Biochemical and biophysical research communications 2000;276(2):530-3.
2000: Maggie C Walter; Hanns Lochmüller; Peter Reilich; Thomas Klopstock; Robert Huber; Manfred Hartard; M Hennig; Dieter Pongratz; Wolfgang Müller-Felber
Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study.
Neurology 2000;54(9):1848-50.
2000: Marcel Toepfer; M Schroeder; Wolfgang Müller-Felber; Hanns Lochmüller; Thomas Sitter; Dieter Pongratz; Helmut Schiffl
Successful management of polyneuropathy associated with IgM gammopathy of undetermined significance with antibody-based immunoadsorption.
Clinical nephrology 2000;53(5):404-7.
2000: Rolf Stucka; Angela Abicht; In-Ho Song; D Bönsch; Thomas Deufel; Hanns Lochmüller
A modified alignment of human and rodent 5' untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology.
Neuromuscular disorders : NMD 2000;10(3):213-4.
2000: Rita Horváth; Angela Abicht; Eric A Shoubridge; Veronika Karcagi; Csilla Rózsa; Sámuel Komoly; Hanns Lochmüller
Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.
Journal of neurology 2000;247(1):65-7.
2000: Maggie C Walter; Hanns Lochmüller; Marcel Toepfer; Beate Schlotter; Peter Reilich; M Schröder; Wolfgang Müller-Felber; Dieter Pongratz
High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study.
Journal of neurology 2000;247(1):22-8.
1999: Marcel Toepfer; Christian Folwaczny; Hanns Lochmüller; M Schroeder; Rudolf L Riepl; Dieter Pongratz; Wolfgang Müller-Felber
Noninvasive (13)C-octanoic acid breath test shows delayed gastric emptying in patients with amyotrophic lateral sclerosis.
Digestion 1999;60(6):567-71.
1999: Angela Abicht; Rolf Stucka; Veronika Karcagi; Agnes Herczegfalvi; Rita Horváth; Wilhelm Mortier; Ulrike Schara; V Ramaekers; W Jost; J Brunner; G Janssen; U Seidel; Beate Schlotter; Wolfgang Müller-Felber; Dieter Pongratz; Reinhardt Rüdel; Hanns Lochmüller
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
Neurology 1999;53(7):1564-9.
1999: Angela Abicht; Hanns Lochmüller
Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc.
Current opinion in molecular therapeutics 1999;1(5):645-50.
1999: Marcel Toepfer; M Schroeder; JW Unger; Hanns Lochmüller; Dieter Pongratz; Wolfgang Müller-Felber
Neuromyotonia, myocloni, sensory neuropathy and cerebellar symptoms in a patient with antibodies to neuronal nucleoproteins (anti-Hu-antibodies).
Clinical neurology and neurosurgery 1999;101(3):207-9.
1999: Hanns Lochmüller; T Johns; Eric A Shoubridge
Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts.
Experimental cell research 1999;248(1):186-93.
1999: Marcel Toepfer; P Fischer; Angela Abicht; Hanns Lochmüller; Dieter Pongratz; Wolfgang Müller-Felber
Localization of transforming growth factor beta in association with neuromuscular junctions in adult human muscle.
Cellular and molecular neurobiology 1999;19(2):297-300.
1998: R Krämer; Hanns Lochmüller; Angela Abicht; Reinhardt Rüdel; Heinrich Brinkmeier
Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Neuromuscular disorders : NMD 1998;8(8):542-50.
1998: Wolfgang Müller-Felber; Marcel Toepfer; T Müller; Josef Müller-Höcker; P Fischer; Hanns Lochmüller; Dieter Pongratz
Tenascin is a useful marker in the diagnosis of inflammatory myopathies.
European journal of medical research 1998;3(6):281-7.
1998: Gyula Acsadi; D O'Hagan; Hanns Lochmüller; S Prescott; Nancy Larochelle; J Nalbantoglu; Agnes Jani; G Karpati
Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells.
Journal of molecular medicine (Berlin, Germany) 1998;76(6):442-50.
1997: Angela Abicht; Wolfgang Müller-Felber; P Fischer; I Jakob; LL Kürz; R Rudel; Wilhelm Mortier; Dieter Pongratz; Hanns Lochmüller
Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.
European journal of medical research 1997;2(12):515-22.
1997: Marcel Toepfer; M Schroeder; AG Klauser; Hanns Lochmüller; M Hirschmann; Rudolf L Riepl; Dieter Pongratz; Wolfgang Müller-Felber
Delayed colonic transit times in amyotrophic lateral sclerosis assessed with radio-opaque markers.
European journal of medical research 1997;2(11):473-6.
1997: George Karpati; Hanns Lochmüller
The scope of gene therapy in humans: scientific, safety and ethical considerations.
Neuromuscular disorders : NMD 1997;7(5):273-6.
1997: Nancy Larochelle; Hanns Lochmüller; J Zhao; A Jani; Patricia L Hallauer; Kenneth E M Hastings; Bernard Massie; S Prescott; Basil J Petrof; George Karpati; Josephine Nalbantoglu
Efficient muscle-specific transgene expression after adenovirus-mediated gene transfer in mice using a 1.35 kb muscle creatine kinase promoter/enhancer.
Gene therapy 1997;4(5):465-72.
1997: A Jani; Hanns Lochmüller; Gyula Acsadi; M Simoneau; J Huard; A Garnier; George Karpati; Bernard Massie
Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA.
Journal of virological methods 1997;64(2):111-24.
1996: ruth slack; DJ Belliveau; M Rosenberg; J Atwal; Hanns Lochmüller; Raquel Aloyz; A Haghighi; B Lach; P Seth; Ellis Cooper; Freda D Miller
Adenovirus-mediated gene transfer of the tumor suppressor, p53, induces apoptosis in postmitotic neurons.
The Journal of cell biology 1996;135(4):1085-96.
1996: Basil J Petrof; Hanns Lochmüller; Bernard Massie; L Yang; C Macmillan; J E Zhao; Josephine Nalbantoglu; George Karpati
Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency.
Human gene therapy 1996;7(15):1813-26.
1996: Hanns Lochmüller; Basil J Petrof; G Pari; Nancy Larochelle; V Dodelet; Q Wang; C Allen; S Prescott; Bernard Massie; Josephine Nalbantoglu; George Karpati
Transient immunosuppression by FK506 permits a sustained high-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscles of adult dystrophic (mdx) mice.
Gene therapy 1996;3(8):706-16.
1996: Heather D Durham; Hanns Lochmüller; Agnes Jani; Gyula Acsadi; Bernard Massie; George Karpati
Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue.
Experimental neurology 1996;140(1):14-20.
1996: George Karpati; Hanns Lochmüller; Josephine Nalbantoglu; Heather D Durham
The principles of gene therapy for the nervous system.
Trends in neurosciences 1996;19(2):49-54.
1996: Gyula Acsadi; Hanns Lochmüller; Agnes Jani; J Huard; Bernard Massie; S Prescott; M Simoneau; Basil J Petrof; George Karpati
Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer.
Human gene therapy 1996;7(2):129-40.
1995: Basil J Petrof; Gyula Acsadi; Agnes Jani; Bernard Massie; J Bourdon; N Matusiewicz; L Yang; Hanns Lochmüller; George Karpati
Efficiency and functional consequences of adenovirus-mediated in vivo gene transfer to normal and dystrophic (mdx) mouse diaphragm.
American journal of respiratory cell and molecular biology 1995;13(5):508-17.
1995: Hanns Lochmüller; Basil J Petrof; C Allen; S Prescott; Bernard Massie; George Karpati
Immunosuppression by FK506 markedly prolongs expression of adenovirus-delivered transgene in skeletal muscles of adult dystrophic [mdx] mice.
Biochemical and biophysical research communications 1995;213(2):569-74.
1995: J Huard; Hanns Lochmüller; Gyula Acsadi; Agnes Jani; P Holland; C Guérin; Bernard Massie; George Karpati
Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants.
Experimental and molecular pathology 1995;62(2):131-43.
1995: Carl Detlev Reimers; Hanns Lochmüller; Norbert Goebels; Beate Schlotter; U Stempfle
[Effect of muscular work on the myosonogram].
Ultraschall in der Medizin (Stuttgart, Germany : 1980) 1995;16(2):79-83.
1995: J Huard; Hanns Lochmüller; Gyula Acsadi; Agnes Jani; Bernard Massie; George Karpati
The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants.
Gene therapy 1995;2(2):107-15.
1994: Hanns Lochmüller; Agnes Jani; J Huard; S Prescott; M Simoneau; Bernard Massie; George Karpati; Gyula Acsadi
Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (delta E1 + delta E3) during multiple passages in 293 cells.
Human gene therapy 1994;5(12):1485-91.
1994: Gyula Acsadi; Agnes Jani; J Huard; K Blaschuk; Bernard Massie; P Holland; Hanns Lochmüller; George Karpati
Cultured human myoblasts and myotubes show markedly different transducibility by replication-defective adenovirus recombinants.
Gene therapy 1994;1(5):338-40.
1994: Dieter Heuss; Andreas Engelhardt; Hanns Lochmüller; H Göbel; Bernhard Neundörfer
Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis.
Virchows Archiv : an international journal of pathology 1994;425(1):101-5.
1993: Hanns Lochmüller; Carl Detlev Reimers; P Fischer; Dieter Heuss; Josef Müller-Höcker; Dieter Pongratz
Exercise-induced myalgia in hypothyroidism.
The Clinical investigator 1993;71(12):999-1001.
1993: T Vogl; Stefan Dresel; Hanns Lochmüller; C Bergman; Carl Detlev Reimers; J Lissner
Third cranial nerve palsy caused by gummatous neurosyphilis: MR findings.
AJNR. American journal of neuroradiology 1993;14(6):1329-31.
1993: Dieter Heuss; Hanns Lochmüller; P Habermeyer; Carl Detlev Reimers; Dieter Pongratz
[Endogenous bilateral compression syndrome of the suprascapular nerve. Overview and case report].
Der Nervenarzt 1993;64(10):677-80.
1992: R Stucka; C Schwarzlose; Hanns Lochmüller; U Häcker; H Feldmann
Molecular analysis of the yeast Ty4 element: homology with Ty1, copia, and plant retrotransposons.
Gene 1992;122(1):119-28.
1989: Hanns Lochmüller; R Stucka; H Feldmann
A hot-spot for transposition of various Ty elements on chromosome V in Saccharomyces cerevisiae.
Current genetics 1989;16(4):247-52.
1989: R Stucka; Hanns Lochmüller; H Feldmann
Ty4, a novel low-copy number element in Saccharomyces cerevisiae: one copy is located in a cluster of Ty elements and tRNA genes.
Nucleic acids research 1989;17(13):4993-5001.