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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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Duchenne muscular dystrophy and caregiver burden: a systematic review

Developmental medicine and child neurology, 2018-10, Vol.60 (10), p.987-996

2018

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A multi-source approach to determine SMA incidence and research ready population

Journal of neurology, 2017-07, Vol.264 (7), p.1465-1473

2017

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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.453-465

2019

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Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome

Neuropediatrics, 2015-02, Vol.46 (1), p.5

2015

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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

2017

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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

Annals of clinical and translational neurology, 2023-11, Vol.10 (11), p.2155-2160

2023

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Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy

Neuropediatrics, 2017-08, Vol.48 (4), p.273

2017

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Outcomes in Duchenne muscular dystrophy: nature, nurture, culture–or all three?

Developmental medicine and child neurology, 2017-08, Vol.59 (8), p.780-781

2017

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Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1

Neuropediatrics, 2022-04, Vol.53 (2), p.122

2022

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Discrepancy in redetermination of SMN2 copy numbers in children with SMA

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

2019

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Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians

Neuropediatrics, 2019-12, Vol.50 (6), p.359

2019

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p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

Annals of neurology, 2005-01, Vol.57 (1), p.148-151

2005

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Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment

European journal of neurology, 2023-07, Vol.30 (7), p.1945-1956

2023

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Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Journal of neurology, 2023-05, Vol.270 (5), p.2531-2546

2023

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Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec -A Single Centre Experience

Journal of neuromuscular diseases, 2021-01, Vol.8 (2), p.209-216

2021

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Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model

CNS drugs, 2022-02, Vol.36 (2), p.181-190

2022

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Congenital Muscular Dystrophies and Myopathies: An Overview and Update

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

2017

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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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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Journal of neurology, neurosurgery and psychiatry, 2024-02, Vol.95 (2), p.103

2024

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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Neurology, 2014-12, Vol.83 (23), p.2183

2014

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Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial

Muscle & nerve, 2018-11, Vol.58 (5), p.639-645

2018

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

Duchenne muscular dystrophy and caregiver burden: a systematic review

A multi-source approach to determine SMA incidence and research ready population

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome

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

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy

Outcomes in Duchenne muscular dystrophy: nature, nurture, culture–or all three?

Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec -A Single Centre Experience

Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

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

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

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

Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial

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