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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

The Lancet (British edition), 2015-05, Vol.385 (9979), p.1748-1757

2015

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.473-480

2016

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Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline

European journal of paediatric neurology, 2020-03, Vol.25, p.5-16

2020

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P84 – 2801: Two novel, disease-causing mutations in the ACSF3 gene in a patient with combined malonic and methylmalonic aciduria

European journal of paediatric neurology, 2015-05, Vol.19, p.S117-S118

2015

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S156-S156

2016

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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S156-S157

2016

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Long-Term Respiratory Support for Children and Adolescents in Austria: A National Survey

Klinische Padiatrie, 2016-01, Vol.228 (1), p.42

2016

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Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S305-S305

2015

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The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S201-S201

2015

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Long-term follow-up of pediatric patients treated with mitoxantrone for multiple sclerosis

Neuropediatrics, 2011-02, Vol.42 (1), p.7

2011

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P94 – 2991: GLUT1-DS presenting as movement disorder in a male adolescent: Possible effect of late treatment with MAD

European journal of paediatric neurology, 2015-05, Vol.19, p.S120-S121

2015

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Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti–N‐Methyl‐D‐Aspartate Receptor Encephalitis

Annals of neurology, 2020-07, Vol.88 (1), p.148-159

2020

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Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke

Thrombosis and haemostasis, 1998-11, Vol.80 (5), p.763

1998

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Isolated cytochrome c oxidase deficiency as a cause of MELAS

Journal of medical genetics, 2008-02, Vol.45 (2), p.117-121

2008

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Glatiramer acetate treatment in patients with childhood and juvenile onset multiple sclerosis

Neuropediatrics, 2003-06, Vol.34 (3), p.120

2003

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Neugeborenenscreening auf spinale Muskelatrophie: Was muss der Pädiater wissen?

Monatsschrift Kinderheilkunde, 2021-04

2021

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Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

Neuropediatrics, 2008-02, Vol.39 (1), p.33

2008

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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Pediatric pulmonology, 2017-04, Vol.52 (4), p.508-515

2017

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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

Clinical pediatrics, 2003-10, Vol.42 (8), p.703-710

2003

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VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S63-S64

2022

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DMD – THERAPY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S130

2020

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DMD – THERAPY: P.285 In non-ambulatory DMD patients, one-year treatment benefit of idebenone in respiratory function extrapolates to 3-year delay in start of assisted ventilation

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S130-S130

2020

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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline

P84 – 2801: Two novel, disease-causing mutations in the ACSF3 gene in a patient with combined malonic and methylmalonic aciduria

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Long-Term Respiratory Support for Children and Adolescents in Austria: A National Survey

Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids

The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy

Long-term follow-up of pediatric patients treated with mitoxantrone for multiple sclerosis

P94 – 2991: GLUT1-DS presenting as movement disorder in a male adolescent: Possible effect of late treatment with MAD

Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti–N‐Methyl‐D‐Aspartate Receptor Encephalitis

Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke

Isolated cytochrome c oxidase deficiency as a cause of MELAS

Glatiramer acetate treatment in patients with childhood and juvenile onset multiple sclerosis

Neugeborenenscreening auf spinale Muskelatrophie: Was muss der Pädiater wissen?

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Genetic spectrum of hereditary neuropathies with onset in the first year of life

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study

DMD – THERAPY

DMD – THERAPY: P.285 In non-ambulatory DMD patients, one-year treatment benefit of idebenone in respiratory function extrapolates to 3-year delay in start of assisted ventilation

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