Détail de l'auteur
Auteur Schara U |
Documents disponibles écrits par cet auteur



![]()
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study Type de document : Article Auteurs : Annoussamy M ; Seferian AM ; Daron A ; Pereon Y ; Cances C ; Vuillerot C ; De Waele L ; Laugel V ; Schara U ; Gidaro T ; Lilien C ; Hogrel JY ; Carlier P ; Fournier E ; Lowes L ; Gorni K ; Ly-Le Moal M ; Hellbach N ; Seabrook T ; Czech C ; Hermosilla R ; Servais L Editeur : United States Année de publication : 24/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33369268 / DOI : 10.1002/acn3.51281
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33369268 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
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
Revue : EBiomedicine, 51 Titre : A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism Type de document : Article Auteurs : Meinke P ; Kerr ARW ; Czapiewski R ; de Las Heras JI ; Dixon CR ; Harris E ; Kolbel H ; Muntoni F ; Schara U ; Straub V ; Schoser B ; Wehnert M ; Schirmer EC Editeur : Netherlands Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : diagnostic ; dystrophie musculaire ; dystrophie musculaire d'Emery-Dreifuss ; étude de cohorte ; maladie neuromusculaire ; RECHERCHE Pubmed / DOI : Pubmed : 31862442 / DOI : 10.1016/j.ebiom.2019.11.048
N° Profil MNM : 2019122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31862442 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell C, Barohn RJ, Bertini E, et al.
Journal of comparative effectiveness research, 2020
Revue : Journal of comparative effectiveness research Titre : Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy Type de document : Article Auteurs : Campbell C ; Barohn RJ ; Bertini E ; Chabrol B ; Comi GP ; Darras BT ; Finkel RS ; Flanigan KM ; Goemans N ; Iannaccone ST ; Jones KJ ; Kirschner J ; Mah JK ; Mathews KD ; McDonald CM ; Mercuri E ; Nevo Y ; Pereon Y ; Renfroe JB ; Ryan MM ; Sampson JB ; Schara U ; Sejersen T ; Selby K ; Tulinius M ; Vilchez JJ ; Voit T ; Wei LJ ; Wong BL ; Elfring G ; Souza M ; McIntosh J ; Trifillis P ; Peltz SW ; Muntoni F Editeur : England Année de publication : 2020 Langues : Anglais (eng) Lien associé : NCT00592553
NCT01826487Pubmed / DOI : Pubmed : 32851872 / DOI : 10.2217/cer-2020-0095
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32851872 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Muller-Felber W, Vill K, Schwartz O, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 109
Revue : Journal of Neuromuscular Diseases, 7, 2 Titre : Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? Type de document : Article Auteurs : Muller-Felber W, Auteur ; Vill K ; Schwartz O ; Gläser D ; Nennstiel U ; Wirth B ; Burggraf S ; Röschinger W ; Becker M ; Durner J ; Eggermann K ; Muller C ; Hannibal I ; Olgemoller B ; Schara U ; Blaschek A ; Kolbel H Editeur : Netherlands Année de publication : 2020 Pages : p 109 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32144995 / DOI : 10.3233/JND-200475
N° Profil MNM : 2020031 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32144995 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases
Roos A, Hathazi D, Schara U
Methods in molecular biology (Clifton, N.J.), 2020, 2169, p 197
Permalink![]()
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
Permalink![]()
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus SB, Wallgren-Pettersson C, BÃ nnemann CG, et al.
Neuromuscular disorders : NMD, 2020
Permalink![]()
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Pechmann A, Baumann M, Bernert G, et al.
Journal of Neuromuscular Diseases, 2019
Permalink![]()
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
Servais L, Straathof CSM, Schara U, et al.
Neuromuscular disorders : NMD, 2019
Permalink![]()
One year of newborn screening for SMA - Results of a German pilot project
Vill K, Kolbel H, Schwartz O, et al.
Journal of Neuromuscular Diseases, 2019, 6, 4, 503
Permalink![]()
Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy
Preube C, von Moers A, Kolbel H, et al.
Neuromuscular disorders : NMD, 2019, 29, 7, p 487
Permalink![]()
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Geis T, Rodl T, Topaloglu H, et al.
Orphanet journal of rare diseases, 2019, 14, 1
Permalink![]()
Effect and safety of treatment with ACE-inhibitor Enalapril and beta-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
Dittrich S, Graf E, Trollmann R, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 105
Permalink![]()
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
Kolbel H, Hathazi D, Jennings M, et al.
Frontiers in neurology, 2019, 10, p 470
Permalink![]()
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, et al.
Neurology, 2019, 92, 16
Permalink![]()
Characteristic clinical and ultrastructural findings in nesprinopathies
Kolbel H, Abicht A, Schwartz O, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2019, 23, 2, p 254
Permalink![]()
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
Pechmann A, Konig K, Bernert G, et al.
Orphanet journal of rare diseases, 2019, 14, 1, p 18
Permalink![]()
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon A, Seferian AM, Daron A, et al.
PLoS ONE, 2018, e0201004
Permalink![]()
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann A, Langer T, Schorling D, et al.
Journal of Neuromuscular Diseases, 2018, 5, 2, p 135
Permalink![]()
Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria
Hinze CH, Oommen PT, Dressler F, et al.
Pediatric rheumatology online journal, 2018, 16, 1
Permalink![]()
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
Crow RA, Hart KA, McDermott MP, et al.
Trials, 2018, 19, 1
Permalink![]()
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H, Salter CG, Refai O, et al.
Brain : a journal of neurology, 2017, 140, 11, p 2838
Permalink![]()
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Guglieri M, Bushby K, McDermott MP, et al.
Contemporary clinical trials, 2017, 58, p 34
Permalink![]()
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald CM, Campbell C, Torricelli RE, et al.
Lancet (London, England), 2017, 390, 10101, p 1489
Permalink