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Ana Djarmati
Observed names:
A Djarmati,
A. Djarmati,
Djarmati, A.,
Djarmati, Ana
Observed institutions:
Eurac Research,
Oregon Health & Science University,
University of Michigan,
Christian-Albrechts-Universität zu Kiel,
University of Belgrade,
Pediatrics and Genetics,
University of Birmingham,
University of Tübingen,
University of Lübeck
show all 9
OpenAlex ID:
A5113600739
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
2004
·
K. Hedrich
, A. Djarmati
, et al.
·
Neurology
·
185
Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP
2011
·
K. Matthew Scaglione
, Eszter Zavodszky
, et al.
·
Molecular Cell
·
155
PDF
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
2009
·
Ana Djarmati
, Susanne A Schneider
, et al.
·
The Lancet Neurology
·
147
The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability
2010
·
Thomas M. Durcan
, Maria Kontogiannea
, et al.
·
Human Molecular Genetics
·
144
PDF
Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease
2006
·
Katja Hedrich
, Johann Hagenah
, et al.
·
Archives of Neurology
·
133
Large-scale replication and heterogeneity in Parkinson disease genetic loci
2012
·
Manu Sharma
, John P.A. Ioannidis
, et al.
·
Neurology
·
131
PDF
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
2005
·
Christine Klein
, Ana Djarmati
, et al.
·
European Journal of Human Genetics
·
131
Myoclonus-dystonia: significance of largeSGCEdeletions
2008
·
A. Grünewald
, A. Djarmati
, et al.
·
Human Mutation
·
116
PDF
Recessively Inherited Parkinsonism
2010
·
Norbert Brüggemann
, Johann Hagenah
, et al.
·
Archives of Neurology
·
90
Detection ofParkin(PARK2) andDJ1(PARK7) mutations in early-onset Parkinson disease:Parkinmutation frequency depends on ethnic origin of patients
2004
·
Ana Djarmati
, Katja Hedrich
, et al.
·
Human Mutation
·
81
PDF
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
2009
·
Rejko Krüger
, Manu Sharma
, et al.
·
Neurobiology of Aging
·
73
ATP13A2 variants in early‐onset Parkinson's disease patients and controls
2009
·
Ana Djarmati
, Johann Hagenah
, et al.
·
Movement Disorders
·
72
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient
2008
·
Philip Seibler
, Ana Djarmati
, et al.
·
The Lancet Neurology
·
67
Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations
2006
·
S. Steinlechner
, J. Stahlberg
, et al.
·
Journal of Neurology Neurosurgery & Psychiatry
·
66
Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
2008
·
J M Hagenah
, B Becker
, et al.
·
Journal of Neurology Neurosurgery & Psychiatry
·
53
Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
2006
·
Ana Djarmati
, Katja Hedrich
, et al.
·
Movement Disorders
·
48
Limbic and Frontal Cortical Degeneration Is Associated with Psychiatric Symptoms in PINK1 Mutation Carriers
2008
·
Kathrin Reetz
, Rebekka Lencer
, et al.
·
Biological Psychiatry
·
47
Evidence for linkage of restless legs syndrome to chromosome 9p
2007
·
K. Lohmann-Hedrich
, A. Neumann
, et al.
·
Neurology
·
47
Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers
2009
·
Norbert Brüggemann
, Manfred Mitterer
, et al.
·
Parkinsonism & Related Disorders
·
39
α-Synuclein gene duplication is present in sporadic Parkinson disease
2008
·
N. Brueggemann
, P. Odin
, et al.
·
Neurology
·
36
Co‐occurrence of restless legs syndrome and Parkin mutations in two families
2005
·
Susanna Adel
, Ana Djarmati
, et al.
·
Movement Disorders
·
36
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
2011
·
Manu Sharma
, Demetrius M. Maraganore
, et al.
·
Neurobiology of Aging
·
34
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
2006
·
Elka Stefanova
, Ana Djarmati
, et al.
·
Movement Disorders
·
34
Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
2006
·
Cindy Zadikoff
, Ekaterina Rogaeva
, et al.
·
Movement Disorders
·
33
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
2015
·
Lisa Wang
, Jan O. Aasly
, et al.
·
Neurology
·
30
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Works count:
51
Citation count:
2,180
H-index:
25
I10-index:
33
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