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PubPharm (30)
1
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2021
von
Ostrozovicova, M.
|
Jech, R.
|
Steel, D.
| +11
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2
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Bourinaris, T.
|
Athanasiou, A.
|
Efthymiou, S.
| +3
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3
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
enthalten in:
The Journal of clinical investigation
| 2021
von
Mencacci, N.
|
Brockmann, M.
|
Dai, J.
| +32
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4
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
enthalten in:
Annals of neurology
| 2020
von
Steel, D.
|
Zech, M.
|
Zhao, C.
| +51
CommentIn: Ann Neurol. 2021 Mar;89(3):626. - PMID 33305837
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5
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
enthalten in:
Scientific reports
| 2020
von
Rattay, T.
|
Rautenberg, M.
|
Söhn, A.
| +12
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6
CSF NFL in a Longitudinally Assessed PD Cohort : Age Effects and Cognitive Trajectories
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2020
von
Lerche, S.
|
Wurster, I.
|
Röben, B.
| +11
CommentIn: Mov Disord. 2020 Jul;35(7):1111-1112. - PMID 32691913
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7
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
enthalten in:
Brain : a journal of neurology
| 2019
von
Efthymiou, S.
|
Salpietro, V.
|
Malintan, N.
| +93
CommentIn: Brain. 2019 Oct 1;142(10):2895-2897. - PMID 31560060
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8
FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
enthalten in:
Brain : a journal of neurology
| 2019
von
Rattay, T.
|
Lindig, T.
|
Baets, J.
| +27
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9
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2018
von
Wiethoff, S.
|
O'Connor, E.
|
Haridy, N.
| +5
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10
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2018
von
O'Connor, E.
|
Vandrovcova, J.
|
Bugiardini, E.
| +14
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Thema: Research Support, Non-U.S. Gov't
Medienart
30
Aufsätze
27
E-Artikel
27
E-Ressourcen
3
Gedruckte Aufsätze
Zeitschriftentitel
3
Movement disorders : official journal of the Mo...
3
NeuroImage
2
American journal of human genetics
2
Annals of neurology
2
Brain : a journal of neurology
2
Journal of neurology, neurosurgery, and psychiatry
2
Neuroreport
1
BMC neurology
1
Brain stimulation
1
Cerebellum (London, England)
1
European journal of human genetics : EJHG
1
Graefe's archive for clinical and experimental ...
1
Human mutation
1
Journal of cognitive neuroscience
1
Journal of neurogenetics
1
Journal of the neurological sciences
1
Neurobiology of disease
1
Neurology
1
Scientific reports
1
Social cognitive and affective neuroscience
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Thema
Research Support, Non-U.S. Gov't
27
Journal Article
5
Case Reports
3
Letter
3
Membrane Proteins
3
Oxygen
3
Research Support, N.I.H., Extramural
3
S88TT14065
2
Biomarkers
2
VPS16 protein, human
2
Vesicular Transport Proteins
2
genetics
1
26700-71-0
1
77521-29-0
1
ATP-Binding Cassette Transporters
1
Acanthocytosis
1
Adaptor Proteins, Signal Transducing
1
Adenylyl Cyclases
1
Amino Acid Transport Systems, Neutral
1
CACNA1A protein, human
Alle anzeigen ...
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Erscheinungszeitraum
6
2020-
18
2010-2019
6
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
30
Englisch
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