A. Djarmati

发表

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations

A. Sprenger, N. Brüggemann, K. Lohmann, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

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.

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

P. S. St George-Hyslop, A. Lang, E. Rogaeva, 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.

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

Aldo Quattrone, Nobutaka Hattori, Anthony E. Lang, 2011, Neurobiology of Aging.

Parkinson disease: Genetic testing in Parkinson disease—who should be assessed?

C. Klein, A. Djarmati, 2011, Nature Reviews Neurology.

Genetic association study of the P‐type ATPase ATP13A2 in late‐onset Parkinson's disease

K. Lohmann, A. Ramírez, S. Paus, 2009, Movement disorders : official journal of the Movement Disorder Society.

Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.

H. Paulson, J. Gestwicki, Junmin Peng, 2011, Molecular cell.

Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15

R. Siebert, K. Lohmann, V. Kostic, 2010, Movement disorders : official journal of the Movement Disorder Society.

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

E. Altenmüller, H. Siebner, N. Brüggemann, 2008, The Lancet Neurology.

Autosomal dominant myoclonus‐dystonia and Tourette syndrome in a family without linkage to the SGCE gene

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

Intrafamilial phenotypic and genetic heterogeneity of dystonia

V. Kostic, C. Klein, A. Ristić, 2006, Journal of the Neurological Sciences.

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.

Spinocerebellar ataxia type 17 in the Yugoslav population

A. Ristić, N. Dragasevic, B. Culjković, 2004, Acta neurologica Scandinavica.

SCA2 and SCA3 mutations in young‐onset dopa‐responsive parkinsonism

V. Kostic, N. Dragasevic, B. Culjković, 2003, European journal of neurology.

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

N. Brüggemann, K. Lohmann, P. Pramstaller, 2009, Parkinsonism & related disorders.

LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation

A. Lang, K. Lohmann, E. Rogaeva, 2010, Neurobiology of Aging.

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.

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

Alexander Münchau, Christine Klein, Alfredo Ramirez, 2010, Archives of neurology.

Chemical composition of leaf extracts of Stevia rebaudiana Bertoni grown experimentally in Vojvodina

A. Djarmati, F. B. Abramovic, S. Markovic, 2008 .

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

E. Altenmüller, H. Siebner, S. Schneider, 2009, The Lancet 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.

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

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

Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation

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

Evidence for linkage of restless legs syndrome to chromosome 9p

I. König, A. Ziegler, U. Stephani, 2008, Neurology.

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.

Myoclonus‐dystonia: significance of large SGCE deletions

V. Fung, J. Volkmann, A. Kupsch, 2008, Human mutation.

Myoclonus-dystonia: Significance of Large SGCE

G. Shulman, J. Volkmann, U. Stephani, 2007 .

The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.

H. Paulson, Lara Fallon, E. Fon, 2011, Human molecular genetics.

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

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

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

J. Ioannidis, M. Farrer, D. Maraganore, 2011, Neurobiology of Aging.

MECP2 mutations in Serbian Rett syndrome patients

C. Klein, V. Dobričić, S. Romac, 2007, Acta neurologica Scandinavica.

The p.S77N presenilin‐associated rhomboid‐like protein mutation is not a frequent cause of early‐onset Parkinson's disease

C. Klein, S. Heinitz, A. Djarmati, 2011, Movement disorders : official journal of the Movement Disorder Society.

ATP13A2 variants in early‐onset Parkinson's disease patients and controls

F. Binkofski, J. Volkmann, A. Lang, 2009, Movement disorders : official journal of the Movement Disorder Society.

α-Synuclein gene duplication is present in sporadic Parkinson disease

K. Lohmann, C. Klein, J. Hagenah, 2008, Neurology.

A-SYNUCLEIN GENE DUPLICATION IS PRESENT IN SPORADIC PARKINSON DISEASE. Authors' reply

A. Bonnet, K. Lohmann, A. Brice, 2008 .

Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene.

V. Kostic, C. Klein, D. Momčilović, 2005, Archives of neurology.

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

E. Altenmüller, H. Siebner, N. Brüggemann, 2008, The Lancet Neurology.

Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP.

J. Gestwicki, Junmin Peng, P. Xu, 2011, Molecules and Cells.