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Ana Djarmati

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Sascha Heinitz; Christine Klein; Ana Djarmati
The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.
kenneth Scaglione; Sokol Todi; Ping Xu; Eszter Zavodszky; Ana Djarmati; Svetlana Fischer; Jason E Gestwicki; John Konen; Srikanth Patury; Junmin Peng; Edgardo Rodriguez; Henry L Paulson
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.
Christine Klein; Ana Djarmati
Parkinson disease: genetic testing in Parkinson disease-who should be assessed?

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All Publications

2011: Sascha Heinitz; Christine Klein; Ana Djarmati
The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2011;26(13):2441-2.
2011: kenneth Scaglione; Sokol Todi; Ping Xu; Eszter Zavodszky; Ana Djarmati; Svetlana Fischer; Jason E Gestwicki; John Konen; Srikanth Patury; Junmin Peng; Edgardo Rodriguez; Henry L Paulson
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.
Molecular cell 2011;43(4):599-612.
2011: Christine Klein; Ana Djarmati
Parkinson disease: genetic testing in Parkinson disease-who should be assessed?
Nature reviews. Neurology 2011;7(1):7-9.
2011: Thomas M Durcan; Maria Kontogiannea; Thorhildur Thorarinsdottir; Lara Fallon; Aislinn J Williams; Ana Djarmati; Tadeu Fantaneanu; Henry L Paulson; Edward A Fon
The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
Human molecular genetics 2011;20(1):141-54.
2010: Norbert Brüggemann; Johann Hagenah; Kathrin Reetz; Alexander Schmidt; Meike Kasten; Inga Buchmann; Susanne Eckerle; M Bähre; Alexander Münchau; Ana Djarmati; Joyce van der Vegt; Hartwig Siebner; Ferdinand Binkofski; Alfredo Ramirez; Maria I Behrens; Christine Klein
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
Archives of neurology 2010;67(11):1357-63.
2010: Anne Weissbach; Ana Djarmati; Christine Klein; Natasa Dragasević; Christine Zühlke; Aleksandar Raković; Miodrag Guzvić; Elisabeth Butz; Holger Tönnies; Reiner Siebert; Igor Petrović; Marina Svetel; Vladimir S Kostić; Katja Lohmann
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
Movement disorders : official journal of the Movement Disorder Society 2010;25(11):1577-82.
2010: Connie Marras; Christine Klein; Anthony E Lang; Yosuke Wakutani; Danielle Moreno; Christine Sato; Edwin Yip; Renato P Munhoz; Katja Lohmann; Ana Djarmati; Andrew Bi; Ekaterina Rogaeva
LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation.
Neurobiology of aging 2010;31(4):721-2.
2009: Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens; Heike Pawlack; Katja Lohmann; Alfredo Ramirez; Vera Tadić; Norbert Brüggemann; Daniela Berg; Hartwig R Siebner; Anthony E Lang; Peter P Pramstaller; Ferdinand Binkofski; Vladimir S Kostić; Jens Volkmann; Thomas Gasser; Christine Klein
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
Movement disorders : official journal of the Movement Disorder Society 2009;24(14):2104-11.
2009: Norbert Brüggemann; Manfred Mitterer; Andrea J Lanthaler; Ana Djarmati; Johann Hagenah; Karin Wiegers; Susen Winkler; Heike Pawlack; Thora Lohnau; Peter P Pramstaller; Christine Klein; Katja Lohmann
Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.
Parkinsonism & related disorders 2009;15(6):425-9.
2009: Ana Djarmati; Susanne A Schneider; Katja Lohmann; Susen Winkler; Heike Pawlack; Johann Hagenah; Norbert Brüggemann; Simone Zittel; Tania Fuchs; Aleksandar Raković; Alexander Schmidt; Hans-Christian Jabusch; Robert Wilcox; Vladimir S Kostić; Hartwig R Siebner; Eckart Altenmüller; Alexander Münchau; Laurie J Ozelius; Christine Klein
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Lancet neurology 2009;8(5):447-52.
2009: Aleksandar Rakovic; Barbara Stiller; Ana Djarmati; Antonia Flaquer; Jan Freudenberg; Mohammad-Reza Toliat; Michael Linnebank; Vladimir Kostic; Katja Lohmann; Sebastian Paus; Peter Nürnberg; Christian Kubisch; Christine Klein; Ullrich Wüllner; Alfredo Ramirez
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2009;24(3):429-33.
2008: Johann Hagenah; B Becker; N Brüggemann; Ana Djarmati; K Lohmann; Andreas Sprenger; Christine Klein; Günter Seidel
Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations.
Journal of neurology, neurosurgery, and psychiatry 2008;79(9):1071-4.
2008: Kathrin Reetz; Rebekka Lencer; Susanne Steinlechner; Christian Gaser; Johann Hagenah; Christian Büchel; Dirk Petersen; Norman Kock; Ana Djarmati; Hartwig R Siebner; Christine Klein; Ferdinand Binkofski
Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers.
Biological psychiatry 2008;64(3):241-7.
2008: Philip Seibler; Ana Djarmati; Brigitte Langpap; Johann Hagenah; Alexander Schmidt; Norbert Brüggemann; Hartwig R Siebner; Hans-Christian Jabusch; Eckart Altenmüller; Alexander Münchau; Katja Lohmann; Christine Klein
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
Lancet neurology 2008;7(5):380-1.
2008: Katja Lohmann-Hedrich; A Neumann; André Kleensang; Thora Lohnau; Hiltrud Muhle; Ana Djarmati; Inke R König; Peter P Pramstaller; Eberhard Schwinger; Patricia L Kramer; Andreas Ziegler; Ulrich Stephani; Christine Klein
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
Neurology 2008;70(9):686-94.
2008: Anne Grünewald; Ana Djarmati; Katja Lohmann-Hedrich; K Farrell; J A Zeller; Niels Allert; F Papengut; B Petersen; Victor S C Fung; C M Sue; D O'Sullivan; N Mahant; Andreas Kupsch; R S Chuang; Karin Wiegers; H Pawlack; Johann Hagenah; Laurie J Ozelius; Ulrich Stephani; Robert Schuit; Anthony E Lang; Jens Volkmann; Alexander Münchau; Christine Klein
Myoclonus-dystonia: significance of large SGCE deletions.
Human mutation 2008;29(2):331-2.
2007: Ana Djarmati; V Dobricić; M Kecmanović; P Marsh; J Jancić-Stefanović; Christine Klein; M Djurić; Stanka Romac
MECP2 mutations in Serbian Rett syndrome patients.
Acta neurologica Scandinavica 2007;116(6):413-9.
2007: Michael Orth; Ana Djarmati; Tobias Bäumer; Susen Winkler; Anne Grünewald; Katja Lohmann-Hedrich; Kemal Kabakci; Johann Hagenah; Christine Klein; Alexander Münchau
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
Movement disorders : official journal of the Movement Disorder Society 2007;22(14):2090-6.
2007: Ana Djarmati; Miodrag Guzvić; Anne Grünewald; Anthony E Lang; Peter P Pramstaller; David K Simon; Angela M Kaindl; Peter Vieregge; Anders O H Nygren; christian beetz; Katja Hedrich; Christine Klein
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
Movement disorders : official journal of the Movement Disorder Society 2007;22(12):1708-14.
2007: Susanne Steinlechner; Jessica Stahlberg; Birgit Völkel; Ana Djarmati; Johann Hagenah; Anja Hiller; Katja Hedrich; Inke R König; Christine Klein; Rebekka Lencer
Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations.
Journal of neurology, neurosurgery, and psychiatry 2007;78(5):532-5.
2007: Anja Hiller; Johann Hagenah; Ana Djarmati; Katja Hedrich; Kathrin Reetz; Christiane Schneider-Gold; Wolfram Kress; Alexander Münchau; Christine Klein
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
Movement disorders : official journal of the Movement Disorder Society 2007;22(1):145-7.
2006: Vladimir S Kostić; Marina Svetel; Kemal Kabakci; Aleksandar Ristić; Igor Petrović; Birgitt Schuele; Norman Kock; Ana Djarmati; Stanka Romac; Christine Klein
Intrafamilial phenotypic and genetic heterogeneity of dystonia.
Journal of the neurological sciences 2006;250(1-2):92-6.
2006: Elka Stefanova; Ana Djarmati; Dragana Momcilović; Natasa Dragasević; Marina Svetel; Christine Klein; Vladimir S Kostić
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.
Movement disorders : official journal of the Movement Disorder Society 2006;21(11):2010-5.
2006: Ana Djarmati; Katja Hedrich; Marina Svetel; Thora Lohnau; Eberhard Schwinger; Stanka Romac; Peter P Pramstaller; Vladimir Kostić; Christine Klein
Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
Movement disorders : official journal of the Movement Disorder Society 2006;21(9):1526-30.
2006: Katja Hedrich; Johann Hagenah; Ana Djarmati; Anja Hiller; Thora Lohnau; Kathrin Lasek; Anne Grünewald; Rüdiger Hilker; Susanne Steinlechner; Heather Boston; Norman Kock; Christiane Schneider-Gold; Wolfram Kress; Hartwig R Siebner; Ferdinand Binkofski; Rebekka Lencer; Alexander Münchau; Christine Klein
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
Archives of neurology 2006;63(6):833-8.
2006: Cindy Zadikoff; Ekaterina Rogaeva; Ana Djarmati; Christine Sato; Shabnam Salehi-Rad; Peter St George-Hyslop; Christine Klein; Anthony E Lang
Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
Movement disorders : official journal of the Movement Disorder Society 2006;21(6):875-9.
2006: Susanna Adel; Ana Djarmati; Kemal Kabakci; Irene Pichler; Cordula Eskelson; Thora Lohnau; Norman Kock; Johann Hagenah; Katja Hedrich; Eberhard Schwinger; Patricia L Kramer; Peter P Pramstaller; Christine Klein
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):258-63.
2005: Ana Djarmati; Marina Svetel; Dragana Momcilovic; Vladimir Kostic; Christine Klein
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene.
Archives of neurology 2005;62(10):1641.
2005: Christine Klein; Ana Djarmati; Katja Hedrich; Nora Schäfer; Cesa Scaglione; Roberta Marchese; Norman Kock; Birgitt Schuele; Anja Hiller; Thora Lohnau; Susen Winkler; Karin Wiegers; Robert Hering; Peter Bauer; Olaf Riess; Giovanni Abbruzzese; Paolo Martinelli; Peter P Pramstaller
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
European journal of human genetics : EJHG 2005;13(9):1086-93.
2004: Ana Djarmati; Katja Hedrich; Marina Svetel; Nora Schäfer; Vladislava Juric; Slobodanka Vukosavic; Robert Hering; Olaf Riess; Stanka Romac; Christine Klein; Vladimir Kostic
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.
Human mutation 2004;23(5):525.
2004: A Alendar; B Euljković; D Savić; Ana Djarmati; M Keckarević; A Ristić; N Dragasević; V Kosić; Stanka Romac
Spinocerebellar ataxia type 17 in the Yugoslav population.
Acta neurologica Scandinavica 2004;109(3):185-7.
2004: Katja Hedrich; Ana Djarmati; Nora Schäfer; Robert Hering; Claudia Wellenbrock; Peter H Weiss; Rüdiger Hilker; Peter Vieregge; Laurie J Ozelius; Peter Heutink; Vincenzo Bonifati; Eberhard Schwinger; Anthony E Lang; J Noth; Susan Bressman; Peter P Pramstaller; Olaf Riess; Christine Klein
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Neurology 2004;62(3):389-94.
2003: Marina Svetel; Ana Djarmati; N Dragasević; D Savić; B Culjković; Stanka Romac; V S Kostić
SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2003;10(5):597.