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PubPharm (246)
1
Brainstem Chipmunk Sign : A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
enthalten in:
AJNR. American journal of neuroradiology
| 2024
von
Armangue, T.
|
Whitehead, M.
|
Tonduti, D.
| +10
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2
The Use of a SOX10 Reporter Towards Ameliorating Oligodendrocyte Lineage Differentiation from Human Induced Pluripotent Stem Cells
enthalten in:
bioRxiv.org
| 2024
von
Piscopo, V.
|
Chapleau, A.
|
Blaszczyk, G.
| +6
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3
The use of a SOX10 reporter toward ameliorating oligodendrocyte lineage differentiation from human induced pluripotent stem cells
enthalten in:
Glia
| 2024
von
Piscopo, V.
|
Chapleau, A.
|
Blaszczyk, G.
| +7
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4
The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine : focus on neurodegenerative diseases
enthalten in:
Molecular brain
| 2024
von
Coulombe, B.
|
Durcan, T.
|
Bernard, G.
| +4
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5
The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases
enthalten in:
Molecular brain
| 2024
von
Coulombe, B.
|
Durcan, T.
|
Bernard, G.
| +4
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6
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
enthalten in:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
| 2024
von
Laugwitz, L.
|
Schoenmakers, D.
|
Adang, L.
| +25
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7
Letter to the Editor : The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted
enthalten in:
Pediatric neurology
| 2024
von
Hamilton, E.
|
Topaloglu, P.
|
Sinha, J.
| +4
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8
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy
enthalten in:
Brain : a journal of neurology
| 2023
von
Michell-Robinson, M.
|
Watt, K.
|
Grouza, V.
| +17
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9
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
enthalten in:
Pediatric neurology
| 2023
von
Chapleau, A.
|
Mirchi, A.
|
Tran, L.
| +2
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10
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
enthalten in:
Journal of medical genetics
| 2023
von
Mirchi, A.
|
Guay, S.
|
Tran, L.
| +23
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246
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Zeitschriftentitel
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Neurogenetics
21
Journal of child neurology
18
Pediatric neurology
11
American journal of human genetics
10
Molecular genetics and metabolism
7
Annals of neurology
7
Molecular brain
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Orphanet journal of rare diseases
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4
Annals of clinical and translational neurology
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Brain : a journal of neurology
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Annals of Clinical and Translational Neurology
3
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3
Child neurology open
3
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3
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3
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Thema
132
Journal Article
87
Research Support, Non-U.S. Gov't
33
Case Reports
25
Leukodystrophy
25
RNA Polymerase III
24
EC 2.7.7.6
20
Research Support, N.I.H., Extramural
14
Hypomyelination
12
4H leukodystrophy
12
POLR3B protein, human
12
Review
12
leukodystrophy
10
Letter
10
POLR3A protein, human
9
Ataxia
8
POLR3-related leukodystrophy
7
RNA polymerase III
6
Biomarkers
6
hypomyelination
5
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Erscheinungszeitraum
244
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