D. Schorling

发表

Early and lethal neurodegeneration with myasthenic and myopathic features

M. Tarnopolsky, R. Rodenburg, C. Müller, 2017, Neurology.

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

H. Lochmüller, M. Walter, C. Müller-Reible, 2019, Neuropediatrics.

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

C. Evers, C. Bönnemann, K. Hinderhofer, 2017, Neuropediatrics.

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

B. Banwell, L. Medne, C. Bönnemann, 2021, Brain : a journal of neurology.

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

C. Bönnemann, J. Kirschner, D. Schorling, 2017, Neuropediatrics.

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

U. Schara, D. Hauschke, R. Korinthenberg, 2014, Neuromuscular Disorders.

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Hanns Lochmüller, M. Walter, G. Bernert, 2019, Orphanet Journal of Rare Diseases.

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

B. Schlotter-Weigel, M. Blankenburg, P. Huppke, 2022, Orphanet Journal of Rare Diseases.

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

B. Wirth, H. Lochmüller, A. Sickmann, 2022, European journal of neurology.

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

J. Kirschner, A. Pechmann, T. Langer, 2021, Acta paediatrica.

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

B. Wirth, Jutta Becker, J. Kirschner, 2019, Neurology.

Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study

H. Kölbel, U. Schara, J. Kirschner, 2020, Neuromuscular Disorders.

Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey

M. Walter, J. Kirschner, A. Pechmann, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A.

B. Zieger, O. Moske-eick, D. Schorling, 2018, Klinische Padiatrie.

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure

Hanns Lochmüller, J. Kirschner, A. Pechmann, 2019, Neuromuscular Disorders.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

J. Kirschner, A. Pechmann, D. Schorling, 2019, Journal of neuromuscular diseases.

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

R. Rawer, J. Kirschner, A. Pechmann, 2023, Journal of musculoskeletal & neuronal interactions.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

J. Denecke, H. Kölbel, U. Schara, 2018, Journal of neuromuscular diseases.

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

R. Finkel, M. Pane, A. Mayhew, 2023, Neurology and Therapy.