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

Journal of Neuromuscular Diseases, 2020-01, Vol.7 (1), p.1-13

2020

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Congenital Muscular Dystrophies and Myopathies: An Overview and Update

Neuropediatrics, 2017-08, Vol.48 (4), p.247-261

2017

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

Neuropediatrics, 2017-10, Vol.48 (5), p.371-377

2017

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

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.18-18, Article 18

2019

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558

2021

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

Acta Paediatrica, 2021-06, Vol.110 (6), p.1895-1901

2021

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

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.152-152, Article 152

2019

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14 -CDG

Neurology, 2017-08, Vol.89 (7), p.657-664

2017

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

Acta myologica, 2020-03, Vol.39 (1), p.2-12

2020

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Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Neurology, 2019-08, Vol.93 (6), p.267-269

2019

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Neue Therapieoptionen und deren Implikationen für die Transition

NeuroTransmitter, 2019-05, Vol.30 (5), p.36-41

2019

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Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Neurology, 2020-07, Vol.95 (3), p.145-145

2020

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

Klinische Pädiatrie, 2018-11, Vol.230 (6), p.333-335

2018

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

Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.907-909

2019

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

Brain (London, England : 1878), 2023-02, Vol.146 (2), p.668-677

2023

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

Journal of neuromuscular diseases, 2018, Vol.5 (2), p.135-143

2018

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

European journal of neurology, 2022-07, Vol.29 (7), p.2084-2096

2022

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

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-384, Article 384

2022

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

Klinische Padiatrie, 2018-10, Vol.230 (6), p.333

2018

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

Neurology and therapy, 2023-04, Vol.12 (2), p.543-557

2023

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Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study

Journal of neuromuscular diseases, 2023-01, Vol.10 (1), p.29-40

2023

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

Neurology and therapy, 2023-10, Vol.12 (5), p.1799-1801

2023

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Anxiety and Depression in an Internal Medicine Resident Continuity Clinic: Difficult Diagnoses

International journal of psychiatry in medicine, 2001-01, Vol.31 (2), p.155-167

2001

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Improving smoking cessation counseling using a point-of-care health intervention tool (IT): from the Virginia Practice Support and Research Network (VaPSRN)

Journal of the American Board of Family Medicine, 2013-03, Vol.26 (2), p.116-125

2013

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

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

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

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

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

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

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14 -CDG

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

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Neue Therapieoptionen und deren Implikationen für die Transition

Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

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

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

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

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

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

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

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

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

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

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study

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

Anxiety and Depression in an Internal Medicine Resident Continuity Clinic: Difficult Diagnoses

Improving smoking cessation counseling using a point-of-care health intervention tool (IT): from the Virginia Practice Support and Research Network (VaPSRN)

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