Profil bibliographique

David Schorling

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

40Publications signalées

1144Citations signalées

2Affiliations récentes

Institutions déclarées

Roche (Switzerland)University of Freiburg

Domaines associés

Neurogenetic and Muscular Disorders ResearchMuscle Physiology and DisordersRNA modifications and cancerCongenital Anomalies and Fetal SurgeryRNA and protein synthesis mechanisms

Publications récentes

Accès ouvert 2023 erratumOpenAlex

Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer et autres

1 citationNeurology and Therapy

Accès ouvert 2023 articleOpenAlex

Mechanographic analysis of the timed 4 stair climb test - methodology and reference data of healthy children and adolescents.

David Schorling, Rainer Rawer, Imke Kuhlmann, C. Müller et autres

4 citationsPubMed

Accès ouvert 2023 articleOpenAlex

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer et autres

54 citationsNeurology and Therapy

Accès ouvert 2022 articleOpenAlex

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni et autres

42 citationsOrphanet Journal of Rare Diseases

Accès ouvert 2022 articleOpenAlex

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni et autres

75 citationsBrain

Accès ouvert 2022 preprintOpenAlex

Protein signature of human white blood cells enables biochemical tracking of rare neurological diseases

Andreas Hentschel, Nina Rademacher, Ulrike Schara‐Schmidt, Nancy Meyer et autres

0 citationsResearch Square

Accès ouvert 2022 articleOpenAlex

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy

David Schorling, Heike Kölbel, Andreas Hentschel, Astrid Pechmann et autres

26 citationsEuropean Journal of Neurology

2021 conference-paperOpenAlex

Phenotypic Spectrum of PNPT1: Interferonopathy or Not?

David Schorling, Rupleen Kaur, Sandra Donkervoort, C. Bönnemann et autres

0 citationsNeuropediatrics

Accès ouvert 2021 articleOpenAlex

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

Osório Lopes Abath Neto, Līvija Medne, Sandra Donkervoort, María Elena Rodríguez‐García et autres

25 citationsBrain

Accès ouvert 2021 articleOpenAlex

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson et autres

56 citationsNature Communications

Accès ouvert 2021 articleOpenAlex

Post‐dural puncture headache—a single‐centre analysis in paediatric patients with and without SMA

David Schorling, Astrid Pechmann, Matthias Eckenweiler, C. Müller et autres

1 citationActa Paediatrica

2021 book-chapterOpenAlex

Adressen

Dietrich Michalk, Eckhard Schönaü, Wiebke Ahrens, Oliver Andrés et autres

0 citationsElsevier eBooks

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