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Auteur Straub V |
Documents disponibles écrits par cet auteur



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Skeletal muscle magnetic resonance imaging in Pompe disease
Diaz-Manera J, Walter G, Straub V
Muscle & Nerve, 2020
Revue : Muscle & Nerve Titre : Skeletal muscle magnetic resonance imaging in Pompe disease Type de document : Article Auteurs : Diaz-Manera J ; Walter G ; Straub V Editeur : United States Année de publication : 06/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33155691 / DOI : 10.1002/mus.27099
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33155691 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians
Choong Wong S, Joseph S, Capaldi N, et al.
Clinical trials (London, England), 2020
Revue : Clinical trials (London, England) Titre : A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians Type de document : Article Auteurs : Choong Wong S ; Joseph S ; Capaldi N ; Marco MD ; Dunne J ; Guglieri M ; Horrocks I ; Straub V ; Faisal Ahmed S Editeur : England Année de publication : 04/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33012180 / DOI : 10.1177/1740774520958395
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33012180 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019
Warman-Chardon J, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2020
Revue : Neuromuscular disorders : NMD Titre : 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019 Type de document : Article Auteurs : Warman-Chardon J ; Diaz-Manera J ; Tasca G ; Straub V Editeur : England Année de publication : 26/09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33004285 / DOI : 10.1016/j.nmd.2020.08.360
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33004285 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging Type de document : Article Auteurs : Giacomucci G ; Monforte M ; Diaz-Manera J ; Mul K ; Fernández-Torrón R ; Maggi L ; Marini Bettolo C ; Dahlqvist JR ; Haberlova J ; Camano P ; Gros M ; Tartaglione T ; Cristiano L ; Gerevini S ; Calandra P ; Deidda G ; Giardina E ; Sacconi S ; Straub V ; Vissing J ; van Engelen B ; Ricci E ; Tasca G Editeur : England Année de publication : 07/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32697863 / DOI : 10.1111/ene.14446
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32697863 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Passarelli C, Selvatici R, Carrieri A, et al.
Frontiers in Genetics, 2020, 11, p 605
Revue : Frontiers in Genetics, 11 Titre : Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy Type de document : Article Auteurs : Passarelli C ; Selvatici R ; Carrieri A ; Di Raimo FR ; Falzarano MS ; Fortunato F ; Rossi R ; Straub V ; Bushby K ; Reza M ; Zharaieva I ; D'Amico A ; Bertini E ; Merlini L ; Sabatelli P ; Borgiani P ; Novelli G ; Messina S ; Pane M ; Mercuri E ; Claustres M ; Tuffery-Giraud S ; Aartsma-Rus A ; Spitali P ; T'Hoen PAC ; LochmÃOEller H ; Strandberg K ; Al-Khalili C ; Kotelnikova E ; Lebowitz M ; Schwartz E ; Muntoni F ; Scapoli C ; Ferlini A Année de publication : 07/2020 Pages : p 605 Langues : Anglais (eng) Lien associé : Texte complet disponible sur PubMed Central® (PMC) Pubmed / DOI : Pubmed : 32719714 / DOI : 10.3389/fgene.2020.00605
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32719714 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Fatehi F, Okhovat AA, Nilipour Y, et al.
European journal of neurology, 2020
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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Stavusis J, Micule I, Wright NT, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 483
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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al.
Annals of clinical and translational neurology, 2020, 7, 5, p 757
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High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia
White Z, Hakim CH, Theret M, et al.
Journal of clinical lipidology, 2020
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Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Frank DE, Schnell FJ, Akana C, et al.
Neurology, 2020, 94, 21, e2270
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Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Hogrel JY, Decostre V, Ledoux I, et al.
Journal of neurology, 2020
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Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms
Banerji CRS, Cammish P, Evangelista T, et al.
Neuromuscular disorders : NMD, 2020
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Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
Willmann R, Lee J, Turner C, et al.
Disease models & mechanisms, 2020, 13, 2
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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Mroczek M, Durmus H, Bijarnia-Mahay S, et al.
Neuromuscular disorders : NMD, 2020
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
Meinke P, Kerr ARW, Czapiewski R, et al.
EBiomedicine, 2020, 51
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Töpf A, Johnson K, Bates A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020, 22, 9, p 1478
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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification
Becker LL, Dafsari HS, Schallner J, et al.
Journal of human genetics, 2020
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A decade of optimizing drug development for rare neuromuscular disorders through TACT
Wagner KR, de Luca A, Caizergues D, et al.
Nature reviews. Drug discovery, 2020, 19, 1, p 1
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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdu-Diaz J, Alonso-Perez J, Nunez-Peralta C, et al.
Neurology, 2020, 94, 10, p e1094
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The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 11
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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy
Signorelli M, Ayoglu B, Johansson C, et al.
Journal of cachexia, sarcopenia and muscle, 2019
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