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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Journal of mass spectrometry., 2017-06, Vol.52 (6), p.372-377

2017

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Encéphalopathie de Gayet-Wernicke et anorexie mentale, présentation clinique particulière chez un adolescent

Neuropsychiatrie de l'enfance et de l'adolescence, 2011-11, Vol.59 (7), p.428-432

2011

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Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients

Neuromuscular disorders : NMD, 2013-02, Vol.23 (2), p.139-148

2013

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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Journal of neurology, neurosurgery and psychiatry, 2015-12, Vol.86 (12), p.1337-1346

2015

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Expression of full-length utrophin prevents muscular dystrophy in mdx mice

Nature medicine, 1998-12, Vol.4 (12), p.1441-1444

1998

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PP08.12 – 2493: Atypical Miller Fisher syndrome presenting as acute isolated bilateral ophthalmoplegia: Report of two nex patients with serological specificity

European journal of paediatric neurology, 2015-05, Vol.19, p.S63-S63

2015

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SMA CLINICAL DATA

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S125-S126

2021

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SMA CLINICAL DATA: EP.251 Feeding and swallowing problems in SMA: a pilot observational study testing the usefulness of the IOPI pressure measurement system

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S125-S126

2021

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Atypical Miller Fisher syndrome presenting as acute isolated bilateral ophthalmoplegia in young children

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S308-S309

2015

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Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older)

Expert opinion on orphan drugs, 2022-12, Vol.10 (1), p.65-72

2022

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Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

Neurology, 2008-07, Vol.71 (1), p.64

2008

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Polymicrogyria with dysmorphic basal ganglia? Think tubulin

Clinical genetics, 2014-02, Vol.85 (2), p.178-183

2014

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T.P.30

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.873-873

2014

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Schwartz–Jampel syndrome with learning difficulties and without osteochondrodysplasia

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S210-S211

2015

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The H reflex as a diagnostic tool for Miller Fisher syndrome in pediatric patients

Journal of clinical neuroscience, 2010-03, Vol.17 (3), p.410-411

2010

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370P Gait analysis in children with Duchenne muscular dystrophy: overground vs. treadmill walking

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.98

2024

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Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S207-S207

2016

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Behavioral and neurophysiological study of attentional and inhibitory processes in ADHD-combined and control children

Acta neurologica Belgica, 2013-12, Vol.113 (4), p.477-485

2013

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PP08.8 – 2833: Multiple sclerosis in Belgian children: A multicentric retrospective study

European journal of paediatric neurology, 2015-05, Vol.19, p.S62-S62

2015

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G.P.215

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.881-881

2014

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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.517-523

2010

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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G.P.85 Cerebellar dysfunction in the mdx mouse: An electrophysiological and behavioral study

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.837-838

2012

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65P Striking periscapular muscle hypertrophy as the presenting symptom in a 5-month old infant diagnosed with a MYH7 congenital myopathy: report of a case

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.419

2024

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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Encéphalopathie de Gayet-Wernicke et anorexie mentale, présentation clinique particulière chez un adolescent

Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Expression of full-length utrophin prevents muscular dystrophy in mdx mice

PP08.12 – 2493: Atypical Miller Fisher syndrome presenting as acute isolated bilateral ophthalmoplegia: Report of two nex patients with serological specificity

SMA CLINICAL DATA

SMA CLINICAL DATA: EP.251 Feeding and swallowing problems in SMA: a pilot observational study testing the usefulness of the IOPI pressure measurement system

Atypical Miller Fisher syndrome presenting as acute isolated bilateral ophthalmoplegia in young children

Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older)

Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

Polymicrogyria with dysmorphic basal ganglia? Think tubulin

T.P.30

Schwartz–Jampel syndrome with learning difficulties and without osteochondrodysplasia

The H reflex as a diagnostic tool for Miller Fisher syndrome in pediatric patients

370P Gait analysis in children with Duchenne muscular dystrophy: overground vs. treadmill walking

Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example

Behavioral and neurophysiological study of attentional and inhibitory processes in ADHD-combined and control children

PP08.8 – 2833: Multiple sclerosis in Belgian children: A multicentric retrospective study

G.P.215

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Diagnostic approach to the congenital muscular dystrophies

G.P.85 Cerebellar dysfunction in the mdx mouse: An electrophysiological and behavioral study

65P Striking periscapular muscle hypertrophy as the presenting symptom in a 5-month old infant diagnosed with a MYH7 congenital myopathy: report of a case

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