K. Hedrich

发表

Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes

Christine Klein, Katja Hedrich, C. Klein, 2005 .

Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

P. Pramstaller, V. Kostic, C. Klein, 2006, Movement disorders : official journal of the Movement Disorder Society.

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

F. Binkofski, R. Hilker, R. Lencer, 2006, Archives of neurology.

The R98Q variation in DJ‐1 represents a rare polymorphism

S. Bressman, P. Pramstaller, P. Vieregge, 2004, Annals of neurology.

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

S. Bressman, P. Vieregge, L. Ozelius, 2005, Neurology.

Role of SCA2 mutations in early‐ and late‐onset dopa‐responsive parkinsonism

K. Marder, A. Lang, S. Fahn, 2002, Annals of neurology.

Recurrent LRRK 2 ( Park 8 ) Mutations in Early-Onset Parkinson ’ s Disease

J. Volkmann, P. Pramstaller, P. Vieregge, 2006 .

Recurrent LRRK2 (Park8) mutations in early‐onset Parkinson's disease

J. Volkmann, P. Pramstaller, P. Vieregge, 2006, Movement disorders : official journal of the Movement Disorder Society.

Parkin mutations in a patient with hemiparkinsonism–hemiatrophy: A clinical–genetic and PET study

C. Goetz, P. Pramstaller, P. Vieregge, 2002, Neurology.

Genetic heterogeneity in ten families with myoclonus-dystonia

L. Ozelius, V. Kostic, C. Klein, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

M. Nitschke, P. Pramstaller, A. Münchau, 2004, Movement disorders : official journal of the Movement Disorder Society.

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

O. Riess, V. Kostic, C. Klein, 2004, Human mutation.

Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family

K. Reetz, A. Münchau, C. Klein, 2007, Movement disorders : official journal of the Movement Disorder Society.

Premutations in the FMR1 gene as a modifying factor in Parkin‐associated Parkinson's disease?

J. Volkmann, P. Pramstaller, P. Vieregge, 2005, Movement disorders : official journal of the Movement Disorder Society.

A 1-year, randomized, placebo-controlled study of donepezil in patients with mild to moderate AD. Authors' reply

K. Marder, A. Lang, Juliette M. Harris, 2002 .

Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes

C. Klein, A. Grünewald, K. Hedrich, 2005, Neurology.

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

P. Bauer, P. Pramstaller, G. Abbruzzese, 2005, European Journal of Human Genetics.

Role of parkin mutations in 111 community‐based patients with early‐onset parkinsonism

Christine Klein, Katja Hedrich, X. Breakefield, 2002, Annals of neurology.

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

A. Lang, X. Breakefield, P. Pramstaller, 2001, Human molecular genetics.

Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography

B Becker, P P Pramstaller, P. Pramstaller, 2006, Neurology.

Evaluation of 50 probands with early-onset Parkinson’s disease for Parkin mutations

K. Marder, S. Fahn, S. Bressman, 2002, Neurology.

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification

A. Lang, P. Pramstaller, P. Vieregge, 2007, Movement disorders : official journal of the Movement Disorder Society.

Distribution, type, and origin of Parkin mutations: Review and case studies

K. Marder, A. Lang, Juliette M. Harris, 2004, Movement disorders : official journal of the Movement Disorder Society.

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

J. Noth, P. Weiss, A. Lang, 2004, Neurology.

NR4A2 mutations are rare among European patients with familial Parkinson's disease

P. Pramstaller, P. Vieregge, C. Klein, 2003, Annals of neurology.

Frequency of parkin mutations in late‐onset Parkinson's disease

K. Marder, A. Lang, Juliette M. Harris, 2003, Annals of neurology.

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

W. Reik, M. Nitschke, P. Pramstaller, 2002, American journal of human genetics.

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

X. Breakefield, P. Pramstaller, L. Ozelius, 2002, Movement disorders : official journal of the Movement Disorder Society.

Co‐occurrence of restless legs syndrome and Parkin mutations in two families

P. Pramstaller, I. Pichler, C. Klein, 2006, Movement disorders : official journal of the Movement Disorder Society.

Distal myoclonus and late onset in a large Dutch family with myoclonus–dystonia

F. Ruissen, F. Baas, M. Tijssen, 2006, Neurology.

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

F. Baas, R. D. de Haan, E. Foncke, 2006, Neurology.

Myoclonus–dystonia: Detection of novel, recurrent, and de novo SGCE mutations

Karl E. Wiegers, B. Landwehrmeyer, J. Koelman, 2004, Neurology.

Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

I. König, R. Lencer, C. Klein, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family

C. Klein, P. Kramer, L. Ozelius, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

R. Hilker, F. Scaravilli, T. Jacques, 2005, Annals of neurology.

Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism.

C Büchel, P P Pramstaller, T van Eimeren, 2005, Brain : a journal of neurology.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

P. Pramstaller, L. Ozelius, O. Landt, 2002, Neurology.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

J. Steyaert, G. Matthijs, R. Wevers, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations in DYT1

R. Lencer, X. Breakefield, K. Witt, 2004, Neurology.

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles

G. Seidel, B. Becker, I. König, 2007, Journal of Neurology.

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

K. Marder, L. Cote, W. Scott, 2007, Movement disorders : official journal of the Movement Disorder Society.

Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia

C Büchel, P P Pramstaller, T van Eimeren, 2007, Neurology.

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

C. Helmchen, P. Pramstaller, C. Klein, 2006, Journal of Neurology.

Dominantly transmitted focal dystonia in families of patients with musician’s cramp

E. Altenmüller, N. Brüggemann, S. Bressman, 2006, Neurology.

The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans

Karl Herholz, Christine Klein, Peter P. Pramstaller, 2002, Neuroscience Letters.

The parkin gene is not involved in late-onset Parkinson's disease.

K. Marder, A. Lang, S. Bressman, 2002, Neurology.

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

E. Schwinger, A. Dalski, K. Straube, 2004, European Journal of Human Genetics.

Lewy body Parkinson

Thomas S. Jacques, Rüdiger Hilker, Patricia L. Kramer, 2005 .

Does Alcohol Cancel Static Vestibular Compensation?

S. Bressman, P. Pramstaller, P. Vieregge, 2003 .

Early-onset parkinsonism associated with PINK1 mutations : Frequency, genotypes, and phenotypes. Author's reply

C. Klein, G. Breedveld, V. Bonifati, 2006 .