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PubPharm (179)
1
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Vogt, L.
|
Yang, K.
|
Tse, G.
| +17
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2
Emerging therapies for childhood-onset movement disorders
enthalten in:
Current opinion in pediatrics
| 2024
von
Vogt, L.
|
Quiroz, V.
|
Ebrahimi-Fakhari, D.
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3
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia
enthalten in:
ResearchSquare.com
| 2024
von
Saffari, A.
|
Brechmann, B.
|
Boeger, C.
| +16
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4
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
enthalten in:
Neurobiology of disease
| 2024
von
Afshar-Saber, W.
|
Teaney, N.
|
Winden, K.
| +12
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5
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
enthalten in:
Nature communications
| 2024
von
Saffari, A.
|
Brechmann, B.
|
Böger, C.
| +16
UpdateOf: Res Sq. 2023 Jun 12;:. - PMID 37398196
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6
AP-4 mediates vesicular transport of the 2-AG endocannabinoid producing enzyme DAGLB
enthalten in:
bioRxiv.org
| 2023
von
Davies, A.
|
Ziegler, M.
|
Jumo, H.
| +3
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7
Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2023
von
Zaman, Z.
|
Straka, N.
|
Pinto, A.
| +7
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8
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2023
von
Alecu, J.
|
Saffari, A.
|
Ziegler, M.
| +14
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9
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
enthalten in:
Brain : a journal of neurology
| 2023
von
Saffari, A.
|
Lau, T.
|
Tajsharghi, H.
| +98
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10
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Schmid, C.
|
Gregor, A.
|
Costain, G.
| +27
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Movement disorders : official journal of the Mo...
11
Journal of inherited metabolic disease
8
Movement disorders
7
Autophagy
7
Brain
6
Brain : a journal of neurology
5
Acta neuropathologica
5
Human molecular genetics
5
Movement Disorders
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Neuropediatrics
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Acta Neuropathologica Communications
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Annals of Clinical and Translational Neurology
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Annals of clinical and translational neurology
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Orphanet journal of rare diseases
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Pediatric neurology
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American Journal of Medical Genetics Part C: Se...
3
American journal of medical genetics. Part A
3
Cell reports
3
Current opinion in neurology
3
Neurology. Genetics
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Thema
84
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56
Research Support, Non-U.S. Gov't
32
Research Support, N.I.H., Extramural
21
Review
11
Case Reports
9
Adaptor Protein Complex 4
9
alpha-Synuclein
8
EC 2.7.11.1
8
Parkinson’s disease
8
Proteins
7
Comment
7
TOR Serine-Threonine Kinases
7
autophagy
7
hereditary spastic paraplegia
7
mTOR
6
Autophagy
6
Membrane Proteins
6
Neurodegeneration
6
autism
6
neurodegeneration
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2020-
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2010-2019
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