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Ann Löfgren

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Emmanuel Scalais; Patrick Schlesser; Sara Seneca; Rene Stevens; Rudy Van Coster; Gert Van Goethem; Baudouin Francois; Ann Löfgren; Jean-Jacques Martin; C Nuttin; Frank Roels; Linda De Meirleir
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
Neviana Ivanova; Kristl G Claeys; Tine Deconinck; Ivan Litvinenko; Albena Jordanova; Michaela Auer-Grumbach; Jana Haberlova; Ann Löfgren; Gisele Smeyers; Eva Nelis; Rudy Mercelis; Barbara Plecko; Josef Priller; Josef Zámecník; Berten Ceulemans; Anne Kjersti Erichsen; Erik Björck; Garth Nicholson; Michael W Sereda; Pavel Seeman; Ivo Kremensky; Vanio Mitev; Peter De Jonghe
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Neviana Ivanova; Ann Löfgren; Ivailo Tournev; R Rousev; A Andreeva; Albena Jordanova; V Georgieva; Tine Deconinck; Vincent Timmerman; Ivo Kremensky; Peter De Jonghe; Vanio Mitev
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

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All Publications

2012: Emmanuel Scalais; Patrick Schlesser; Sara Seneca; Rene Stevens; Rudy Van Coster; Gert Van Goethem; Baudouin Francois; Ann Löfgren; Jean-Jacques Martin; C Nuttin; Frank Roels; Linda De Meirleir
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012;16(5):542-8.
2007: Neviana Ivanova; Kristl G Claeys; Tine Deconinck; Ivan Litvinenko; Albena Jordanova; Michaela Auer-Grumbach; Jana Haberlova; Ann Löfgren; Gisele Smeyers; Eva Nelis; Rudy Mercelis; Barbara Plecko; Josef Priller; Josef Zámecník; Berten Ceulemans; Anne Kjersti Erichsen; Erik Björck; Garth Nicholson; Michael W Sereda; Pavel Seeman; Ivo Kremensky; Vanio Mitev; Peter De Jonghe
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Archives of neurology 2007;64(5):706-13.
2006: Neviana Ivanova; Ann Löfgren; Ivailo Tournev; R Rousev; A Andreeva; Albena Jordanova; V Georgieva; Tine Deconinck; Vincent Timmerman; Ivo Kremensky; Peter De Jonghe; Vanio Mitev
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Clinical genetics 2006;70(6):490-5.
2004: Gert Van Goethem; Petri Luoma; Maria T Rantamäki; A Al Memar; Seppo Kaakkola; Peter Hackman; Ralf Krahe; Ann Löfgren; Jean-Jacques Martin; Peter De Jonghe; Anu Suomalainen; Bjarne Udd; Christine Van Broeckhoven
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Neurology 2004;63(7):1251-7.
2003: Gert Van Goethem; Rudy Mercelis; Ann Löfgren; S Seneca; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
Patient homozygous for a recessive POLG mutation presents with features of MERRF.
Neurology 2003;61(12):1811-3.
2003: Giacomo Lus; Eva Nelis; Albena Jordanova; Ann Löfgren; T Cavallaro; Angelo Ammendola; Mariarosa AD Melone; N Rizzuto; Vincent Timmerman; Roberto Cotrufo; Peter De Jonghe
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
Neurology 2003;61(7):988-90.
2003: Dominique Audenaert; Lieve R F Claes; Berten Ceulemans; Ann Löfgren; Christine Van Broeckhoven; Peter De Jonghe
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
Neurology 2003;61(6):854-6.
2003: Gert Van Goethem; Ann Löfgren; Bart Dermaut; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
Human mutation 2003;22(2):175-6.
2003: Gert Van Goethem; Marianne Schwartz; Ann Löfgren; Bart Dermaut; Christine Van Broeckhoven; John Vissing
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
European journal of human genetics : EJHG 2003;11(7):547-9.
2003: Lieve R F Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; Jurgen Del-Favero; Sirpa Ala-Mello; Lina Basel-Vanagaite; Barbara Plecko; Salmo Raskin; Paul Thiry; Nicole I Wolf; Christine Van Broeckhoven; Peter De Jonghe
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Human mutation 2003;21(6):615-21.
2003: Gert Van Goethem; Jean-Jacques Martin; Bart Dermaut; Ann Löfgren; A Wibail; D Ververken; P Tack; I Dehaene; M Van Zandijcke; M Moonen; Chantal Ceuterick; Peter De Jonghe; Christine Van Broeckhoven
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2003;13(2):133-42.
2002: Eva Nelis; Sevim Erdem; Ersin Tan; Ann Löfgren; Chantal Ceuterick; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman; Haluk Topaloglu
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Neuromuscular disorders : NMD 2002;12(9):869-73.
2002: A Pou-Serradell; J Monells; M J Téllez; P Fossas; Ann Löfgren; Jan Meuleman; Vincent Timmerman; Peter De Jonghe; Chantal Ceuterick; Jean-Jacques Martin
[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
Revue neurologique 2002;158(5 Pt 1):579-88.
2001: Bart Dermaut; Samir Kumar-Singh; Chris De Jonghe; Marc Cruts; Ann Löfgren; Ursula Lübke; Patrick Cras; René Dom; Peter Paul De Deyn; Jean-Jacques Martin; Christine Van Broeckhoven
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
Brain : a journal of neurology 2001;124(Pt 12):2383-92.
2001: Gert Van Goethem; Bart Dermaut; Ann Löfgren; Jean-Jacques Martin; Christine Van Broeckhoven
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Nature genetics 2001;28(3):211-2.
2001: Jan Meuleman; A Pou-Serradell; Ann Löfgren; Chantal Ceuterick; Jean-Jacques Martin; Vincent Timmerman; Christine Van Broeckhoven; Peter De Jonghe
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMD 2001;11(4):400-3.
2001: Chantal Ceuterick-de Groote; Peter De Jonghe; Vincent Timmerman; Gert Van Goethem; Ann Löfgren; Berten Ceulemans; Christine Van Broeckhoven; Jean-Jacques Martin
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Pathology, research and practice 2001;197(3):193-8.
2000: Samir Kumar-Singh; Chris De Jonghe; Marc Cruts; R Kleinert; Rong Wang; Marc Mercken; Bart De Strooper; hugo vanderstichele; Ann Löfgren; I Vanderhoeven; Hubert Backhovens; Eugeen Vanmechelen; P M Kroisel; Christine Van Broeckhoven
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
Human molecular genetics 2000;9(18):2589-98.
2000: Peter Young; F Stögbauer; B Eller; Peter De Jonghe; Ann Löfgren; Vincent Timmerman; Bernd Rautenstrauss; K Oexle; H Grehl; Gregor Kuhlenbäumer; Christine Van Broeckhoven; E B Ringelstein; Harald Funke
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Journal of neurology 2000;247(9):696-700.
2000: Gert Van Goethem; Ann Löfgren; Jean-Jacques Martin; Christine Van Broeckhoven
Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.
Journal of medical genetics 2000;37(7):547-8.
2000: Irina V Mersiyanova; S M Ismailov; Alexander V Polyakov; Elena L Dadali; Valeriy Fedotov; Eva Nelis; Ann Löfgren; Vincent Timmerman; Christine Van Broeckhoven; Oleg V Evgrafov
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Human mutation 2000;15(4):340-7.
1999: A Michalík; Jurgen Del-Favero; C Mauger; Ann Löfgren; Christine Van Broeckhoven
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration.
Human genetics 1999;105(5):410-7.
1999: Peter De Jonghe; Vincent Timmerman; Eva Nelis; Els De Vriendt; Ann Löfgren; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
Archives of neurology 1999;56(10):1283-8.
1999: J Martin; Nicole Van Regemorter; Jurgen Del-Favero; Ann Löfgren; Christine Van Broeckhoven
Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.
Journal of the neurological sciences 1999;168(1):37-46.
1999: A Kochański; Vincent Timmerman; Hanna Jedrzejowska; Barbara Ryniewicz; Ann Löfgren; Els De Vriendt; Christine Van Broeckhoven; A Latos-Bieleńska; Irena Hausmanowa-Petrusewicz
Mutation screening of Charcot-Marie-Tooth patients in Poland.
Annals of the New York Academy of Sciences 1999;883():493-6.
1999: Ann Löfgren; Anick De Vos; Karen Sermon; I Liebaers; A Van Steirteghem; Christine Van Broeckhoven
Preimplantation diagnosis for Charcot-Marie-Tooth type 1A.
Annals of the New York Academy of Sciences 1999;883():460-2.
1999: Peter De Jonghe; Eva Nelis; Vincent Timmerman; Ann Löfgren; Jean-Jacques Martin; Christine Van Broeckhoven
Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.
Annals of the New York Academy of Sciences 1999;883():389-96.
1999: Vincent Timmerman; Peter De Jonghe; Chantal Ceuterick; Els De Vriendt; Ann Löfgren; Eva Nelis; L E Warner; James R Lupski; Jean-Jacques Martin; Christine Van Broeckhoven
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology 1999;52(9):1827-32.
1999: Peter De Jonghe; Vincent Timmerman; Chantal Ceuterick; Eva Nelis; Els De Vriendt; Ann Löfgren; A Vercruyssen; Christine Verellen; Lionel Van Maldergem; Jean-Jacques Martin; Christine Van Broeckhoven
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Brain : a journal of neurology 1999;122 ( Pt 2)():281-90.
1999: J Martin; L Martin; Ann Löfgren; M D'Hooghe; Katrien Storm; Wendy Balemans; F Palau; Christine Van Broeckhoven
Classical Friedreich's ataxia and its genotype.
European neurology 1999;42(2):109-15.
1998: Anick De Vos; Karen Sermon; Hilde Van De Velde; Hubert Joris; M Vandervorst; Willy Lissens; G Mortier; P De Sutter; Ann Löfgren; Christine Van Broeckhoven; Inge Liebaers; André Van Steirteghem
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
Molecular human reproduction 1998;4(10):978-84.
1998: Peter Young; Florian Stögbauer; Heiko Wiebusch; Ann Löfgren; Vincent Timmerman; Christine Van Broeckhoven; E Bernd Ringelstein; Gerd Assmann; Harald Funke
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
Neurology 1998;50(3):760-3.
1998: Jurgen Del-Favero; Luc Krols; Andrej Michalik; Jessie Theuns; Ann Löfgren; Dirk Goossens; A Wehnert; Dirk Van den Bossche; K Van Zand; Hubert Backhovens; N van Regenmorter; Jean-Jacques Martin; Christine Van Broeckhoven
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
Human molecular genetics 1998;7(2):177-86.
1997: Luc Krols; Jean-Jacques Martin; G David; Nicole Van Regemorter; Ali Benomar; Ann Löfgren; Giovanni Stevanin; A Dürr; Alexis Brice; Christine Van Broeckhoven
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
Human genetics 1997;99(2):225-32.
1997: Vincent Timmerman; Bernd Rautenstrauss; Lawrence Reiter; T Koeuth; Ann Löfgren; Thomas Liehr; Eva Nelis; KD Bathke; Peter De Jonghe; H Grehl; Jean-Jacques Martin; James R Lupski; Christine Van Broeckhoven
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Journal of medical genetics 1997;34(1):43-9.
1997: Eva Nelis; S Simokovic; Vincent Timmerman; Ann Löfgren; Hubert Backhovens; Peter De Jonghe; Jean-Jacques Martin; Christine Van Broeckhoven
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
Human mutation 1997;9(1):47-52.
1996: Vincent Timmerman; Peter De Jonghe; S Simokovic; Ann Löfgren; J Beuten; Eva Nelis; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.
Human molecular genetics 1996;5(7):1065-9.
1996: Vincent Timmerman; Peter De Jonghe; P Spoelders; S Simokovic; Ann Löfgren; Eva Nelis; Jeffery Vance; Jean-Jacques Martin; Christine Van Broeckhoven
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
Neurology 1996;46(5):1311-8.
1996: Peter De Jonghe; Luc Krols; Andrej Michalik; J Hazan; G Smeyers; Ann Löfgren; J Weissenbach; Jean-Jacques Martin; Christine Van Broeckhoven
Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.
European journal of human genetics : EJHG 1996;4(5):260-6.
1996: Eva Nelis; Christine Van Broeckhoven; Peter De Jonghe; Ann Löfgren; Antoon Vandenberghe; Philippe Latour; E Le Guern; Alexis Brice; Maria Luisa Mostacciuolo; Franco Schiavon; Francesc Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; Paola Mandich; Emilia Bellone; K Silander; Marja-Liisa Savontaus; Ruth Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1996: Vincent Timmerman; Ann Löfgren; E Le Guern; P Liang; Peter De Jonghe; Jean-Jacques Martin; D Verhalle; Wim Robberecht; Riadh Gouider; Alexis Brice; Christine Van Broeckhoven
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Human genetics 1996;97(1):26-34.
1995: Ruth Navon; Vincent Timmerman; Ann Löfgren; P Liang; Eva Nelis; M Zeitune; Christine Van Broeckhoven
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
Prenatal diagnosis 1995;15(7):633-40.
1995: J Liu; Willy Lissens; Christine Van Broeckhoven; Ann Löfgren; Michel Camus; Inge Liebaers; André Van Steirteghem
Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion.
Prenatal diagnosis 1995;15(4):351-8.
1994: D Verhalle; Ann Löfgren; Eva Nelis; I Dehaene; P Theys; M Lammens; R Dom; Christine Van Broeckhoven; Wim Robberecht
Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
Annals of neurology 1994;35(6):704-8.
1993: Francesc Palau; Ann Löfgren; Peter De Jonghe; S Bort; Eva Nelis; Teresa Sevilla; J J Martin; J Vilchez; Félix Prieto; Christine Van Broeckhoven
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
Human molecular genetics 1993;2(12):2031-5.