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PubPharm (67)
1
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy : 25 Roma individuals carrying a founder variant
enthalten in:
Journal of medical genetics
| 2023
von
Justel, M.
|
Jou, C.
|
Sariego-Jamardo, A.
| +29
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2
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
enthalten in:
Cell death & disease
| 2023
von
Suárez-Calvet, X.
|
Fernández-Simón, E.
|
Natera, D.
| +19
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3
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis : new splicing events
enthalten in:
Journal of medical genetics
| 2023
von
Segarra-Casas, A.
|
Domínguez-González, C.
|
Hernández-Laín, A.
| +12
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4
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
enthalten in:
Acta neuropathologica
| 2023
von
Nascimento, A.
|
Bruels, C.
|
Donkervoort, S.
| +31
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5
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Natera-de Benito, D.
|
Olival, J.
|
Garcia-Cabau, C.
| +11
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6
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
enthalten in:
Neuromuscular disorders : NMD
| 2023
von
Rodríguez Cruz, P.
|
Ravenscroft, G.
|
Natera, D.
| +18
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7
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
enthalten in:
The Journal of molecular diagnostics : JMD
| 2022
von
Bullich, G.
|
Matalonga, L.
|
Pujadas, M.
| +104
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8
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial
enthalten in:
The Lancet. Neurology
| 2022
von
Mercuri, E.
|
Deconinck, N.
|
Mazzone, E.
| +121
CommentOn: Lancet Neurol. 2022 Jan;21(1):23-24. - PMID 34942130
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9
The Genetic Landscape of Mitochondrial Diseases in Spain : A Nationwide Call
enthalten in:
Genes
| 2021
von
Bellusci, M.
|
Paredes-Fuentes, A.
|
Ruiz-Pesini, E.
| +105
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10
Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Domínguez-González, C.
|
Madruga-Garrido, M.
|
Hirano, M.
| +9
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Thema: Research Support, Non-U.S. Gov't
Medienart
67
Aufsätze
65
E-Artikel
65
E-Ressourcen
2
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Zeitschriftentitel
7
Scientific reports
6
PloS one
4
Mitochondrion
3
Annals of neurology
3
Journal of medical genetics
3
Journal of neurology
3
Neuromuscular disorders : NMD
2
Acta neuropathologica
2
Annals of clinical and translational neurology
2
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2
Brain : a journal of neurology
2
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2
Genes
2
Journal of inherited metabolic disease
2
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2
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Orphanet journal of rare diseases
2
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2
The Journal of molecular diagnostics : JMD
1
American journal of human genetics
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Thema
67
Journal Article
Research Support, Non-U.S. Gov't
12
Case Reports
11
DNA, Mitochondrial
7
Dystrophin
7
EC 2.7.1.-
7
Multicenter Study
7
Research Support, N.I.H., Extramural
6
Biomarkers
6
EC 2.7.1.21
6
Thymidine Kinase
6
thymidine kinase 2
3
Collagen Type VI
3
Growth Differentiation Factor 15
3
Mitochondrial Proteins
3
RNA, Messenger
2
1339-63-5
2
146888-27-9
2
62031-54-3
2
Klinische Studie
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Erscheinungszeitraum
25
2020-
37
2010-2019
5
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
67
Englisch
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