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U. Schara · SciRah

Researcher profile · Semantic Scholar

U. Schara

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U. Schara — researcher profile on SciRah

h-index: 49
Works: 247
Citations: 6,820

Most-cited papers

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Craig M. McDonald, C. Campbell, R. Torricelli, R. Finkel +69 more
2017The Lancet376 citations Open access
Semantic Scholar
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
A. Chabanon, A. Seferian, A. Daron, Y. Péréon +18 more
2018PLoS ONE147 citations Open access
Semantic Scholar
One Year of Newborn Screening for SMA – Results of a German Pilot Project
K. Vill, H. Kölbel, O. Schwartz, A. Blaschek +13 more
2019Journal of Neuromuscular Diseases142 citations Open access
Semantic Scholar
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
P. Mohassel, S. Donkervoort, M. A. Lone, M. Nalls +42 more
2021Nature Medicine140 citations Open access
Semantic Scholar
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
K. Vill, O. Schwartz, A. Blaschek, D. Gläser +13 more
2021Orphanet Journal of Rare Diseases139 citations Open access
Semantic Scholar
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
A. Pechmann, T. Langer, D. Schorling, S. Stein +11 more
2018Journal of Neuromuscular Diseases122 citations Open access
Semantic Scholar
Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study
M. Annoussamy, A. Seferian, A. Daron, Y. Péréon +18 more
2020Annals of Clinical and Translational Neurology108 citations Open access
Semantic Scholar
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
A. Pechmann, Kirsten König, G. Bernert, Kristina Schachtrup +9 more
2019Orphanet Journal of Rare Diseases101 citations Open access
Semantic Scholar
Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
S. Rudnik-Schöneborn, D. Tölle, J. Senderek, K. Eggermann +11 more
2016Clinical Genetics98 citations
Semantic Scholar
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A. Töpf, K. Johnson, Adam K. Bates, L. Phillips +95 more
2020Genetics in Medicine97 citations Open access
Semantic Scholar
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.
E. Bertini, E. Dessaud, E. Mercuri, F. Muntoni +35 more
2017Lancet Neurology89 citations Open access
Semantic Scholar
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Julien H. Park, C. Elpers, J. Reunert, M. McCormick +10 more
2019Brain : a journal of neurology78 citations Open access
Semantic Scholar
Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy
M. Guglieri, K. Bushby, M. McDermott, K. Hart +43 more
2017Contemporary Clinical Trials70 citations Open access
Semantic Scholar
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
J. Alonso-Pérez, L. González-Quereda, L. Bello, M. Guglieri +56 more
2020Brain : a journal of neurology67 citations Open access
Semantic Scholar
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?
W. Müller-Felber, K. Vill, O. Schwartz, D. Gläser +13 more
2020Journal of Neuromuscular Diseases66 citations Open access
Semantic Scholar
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
C. Preusse, Y. Allenbach, O. Hoffmann, H. Goebel +11 more
2016Acta Neuropathologica Communications66 citations Open access
Semantic Scholar
X-linked myotubular myopathy
M. Annoussamy, C. Lilien, T. Gidaro, E. Gargaun +20 more
2019Neurology58 citations Open access
Semantic Scholar
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
C. Campbell, R. Barohn, E. Bertini, B. Chabrol +31 more
2020Journal of Comparative Effectiveness Research55 citations Open access
Semantic Scholar
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy
R. Villar-Quiles, M. von der Hagen, C. Métay, V. González +34 more
2020Neurology53 citations Open access
Semantic Scholar
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial
Rebecca A. Crow, K. Hart, M. McDermott, R. Tawil +44 more
2018Trials47 citations Open access
Semantic Scholar
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
D. Hathazi, H. Griffin, M. Jennings, M. Giunta +34 more
2020EMBO Journal43 citations Open access
Semantic Scholar
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
Claas H. Hinze, P. Oommen, F. Dressler, A. Urban +12 more
2018Pediatric Rheumatology Online Journal40 citations Open access
Semantic Scholar
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
W. Müller-Felber, A. Blaschek, O. Schwartz, D. Gläser +32 more
2022Journal of Neuromuscular Diseases36 citations Open access
Semantic Scholar
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy.
L. Servais, C. Straathof, U. Schara, A. Klein +10 more
2019Neuromuscular Disorders35 citations Open access
Semantic Scholar
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
E. Piano Mortari, V. Folgiero, V. Marcellini, P. Romania +14 more
2018Autophagy35 citations Open access
Semantic Scholar
International retrospective natural history study of LMNA-related congenital muscular dystrophy
R. ben Yaou, P. Yun, I. Dabaj, G. Norato +40 more
2021Brain Communications32 citations Open access
Semantic Scholar
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
M. Deschauer, H. Hengel, K. Rupprich, M. Kreiss +23 more
2021Brain : a journal of neurology31 citations Open access
Semantic Scholar
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
M. Tacke, I. Borggraefe, L. Gerstl, F. Heinen +58 more
2018Seizure31 citations Open access
Semantic Scholar
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
P. Meinke, Alastair R. W. Kerr, Rafal Czapiewski, J. I. de las Heras +9 more
2019EBioMedicine30 citations Open access
Semantic Scholar
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Hai-Cui Wang, C. Salter, Osama Refai, Holly Hardy +20 more
2017Brain : a journal of neurology30 citations Open access
Semantic Scholar
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
A. Della Marina, E. Wibbeler, A. Abicht, H. Kölbel +3 more
2020Frontiers in Human Neuroscience25 citations Open access
Semantic Scholar
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
H. Kölbel, B. Hauffa, S. Wudy, A. Bouikidis +2 more
2017PLoS ONE25 citations Open access
Semantic Scholar
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial
S. Dittrich, E. Graf, R. Trollmann, U. Neudorf +18 more
2019Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Juvenile Myasthenia Gravis
A. Della Marina, U. Schara
2018Neurology International Open24 citations Open access
Semantic Scholar
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Ann-Kathrin Zaum, B. Stüve, A. Gehrig, H. Kölbel +3 more
2017Neuromuscular Disorders24 citations
Semantic Scholar
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
R. Meyer, M. Begemann, C. Hübner, D. Dey +13 more
2021Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
T. Geis, T. Rödl, H. Topaloğlu, Burcu Balci-Hayta +13 more
2019Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
M. Jennings, A. Kagiava, Leen Vendredy, E. Spaulding +14 more
2022Brain : a journal of neurology20 citations Open access
Semantic Scholar
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients
H. Kölbel, D. Hathazi, M. Jennings, R. Horvath +2 more
2019Frontiers in Neurology20 citations Open access
Semantic Scholar
Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis
Frauke Stascheit, U. Grittner, S. Hoffmann, P. Mergenthaler +18 more
2022Journal of Neurology17 citations Open access
Semantic Scholar
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?
O. Schwartz, H. Kölbel, A. Blaschek, D. Gläser +5 more
2022Journal of Neuromuscular Diseases16 citations Open access
Semantic Scholar
Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.
C. Preusse, A. von Moers, H. Kölbel, D. Pehl +3 more
2019Neuromuscular Disorders16 citations
Semantic Scholar
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC
H. Kölbel, A. Roos, P. F. Ven, T. Evangelista +11 more
2020Human Mutation14 citations Open access
Semantic Scholar
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective.
M. Janisch, Kristin Boehme, S. Thiele, Annette Bock +5 more
2020Neuromuscular Disorders14 citations
Semantic Scholar
Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1
A. Pechmann, M. Baumann, G. Bernert, M. Flotats-Bastardas +27 more
2019Journal of Neuromuscular Diseases13 citations
Semantic Scholar
Characteristic clinical and ultrastructural findings in nesprinopathies.
H. Kölbel, A. Abicht, O. Schwartz, I. Katona +4 more
2019European journal of paediatric neurology11 citations
Semantic Scholar
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22
L. Laugwitz, S. Redler, R. Buchert, M. Sturm +5 more
2018Klinische Pädiatrie11 citations
Semantic Scholar
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands.
S. Neuhaus, C. Wallgren-Pettersson, C. Bonnemann, U. Schara +1 more
2020Neuromuscular Disorders10 citations Open access
Semantic Scholar
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Afshin Saffari, C. Cannet, A. Blaschek, A. Hahn +16 more
2021Orphanet Journal of Rare Diseases9 citations Open access
Semantic Scholar
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Guido Vogt, Naji El Choubassi, Á. Herczegfalvi, H. Kölbel +13 more
2020Journal of Inherited Metabolic Disease9 citations Open access
Semantic Scholar

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