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/vufind/Search/Results?lookfor=%22Vilchez%2C+Juan+J%22&type=Person&sort=year
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PubPharm (88)
1
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS) : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
enthalten in:
The Lancet. Neurology
| 2024
von
Mercuri, E.
|
Vilchez, J.
|
Boespflug-Tanguy, O.
| +25
ErratumIn: Lancet Neurol. 2024 Apr 18;:. - PMID 38643778
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2
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4) : a randomised, double-blind, placebo-controlled phase 2b trial
enthalten in:
The Lancet. Neurology
| 2024
von
Tawil, R.
|
Wagner, K.
|
Hamel, J.
| +36
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3
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
enthalten in:
Nature genetics
| 2024
von
Töpf, A.
|
Cox, D.
|
Zaharieva, I.
| +82
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4
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease
enthalten in:
Neurology
| 2024
von
Sivera, R.
|
Pelayo-Negro, A.
|
Jericó, I.
| +15
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5
Correction to : Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
enthalten in:
Journal of neurology
| 2024
von
Esteller, D.
|
Schiava, M.
|
Verdú-Díaz, J.
| +63
ErratumFor: J Neurol. 2023 Dec;270(12):5849-5865. - PMID 37603075
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6
Loss-of-function variants in
JPH1
cause congenital myopathy with prominent facial involvement
enthalten in:
bioRxiv.org
| 2024
von
Johari, M.
|
Topf, A.
|
Folland, C.
| +10
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7
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
enthalten in:
Journal of neurology
| 2024
von
Esteller, D.
|
Schiava, M.
|
Verdú-Díaz, J.
| +63
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8
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy : A Randomized Controlled Trial
enthalten in:
Neurology
| 2024
von
Dang, U.
|
Damsker, J.
|
Guglieri, M.
| +41
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9
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Johari, M.
|
Topf, A.
|
Folland, C.
| +10
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10
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
enthalten in:
Journal of neurology
| 2023
von
Esteller, D.
|
Schiava, M.
|
Verdú-Díaz, J.
| +63
ErratumIn: J Neurol. 2024 Feb 13;:. - PMID 38349561
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Medienart
88
Aufsätze
65
E-Artikel
65
E-Ressourcen
23
Gedruckte Aufsätze
Zeitschriftentitel
16
Journal of neurology
8
Brain : a journal of neurology
5
Brain
4
Annals of neurology
4
Molecular neurobiology
4
Neurology
3
American journal of human genetics
3
Human mutation
3
Nature genetics
2
Archives of neurology
2
Human genetics
2
Journal of comparative effectiveness research
2
Molecular therapy. Nucleic acids
2
PloS one
2
The Lancet. Neurology
2
bioRxiv.org
1
Amyotrophic lateral sclerosis & frontotemporal ...
1
Disease models & mechanisms
1
European Journal of Neurology
1
European journal of neurology
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Thema
49
Journal Article
31
Research Support, Non-U.S. Gov't
7
Congenital myasthenic syndromes
6
Codon, Nonsense
5
Multicenter Study
5
Nerve Tissue Proteins
5
Randomized Controlled Trial
4
Asymptomatic hyperCKemia
4
Calf hypertrophy
4
Distal myopathy
4
Dok-7
4
Exercise intolerance
4
Fluoxetine
4
GDAP protein
4
GFPT1
4
Inflammatory biopsy
4
Limb-girdle myasthenia
4
STIR sequences
4
Titin
4
Titinopathy
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Erscheinungszeitraum
81
2000-
4
1900-1999
Erscheinungsjahr(e)
Von:
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Sprache
74
Englisch
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