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Clinical and histologic findings in autosomal centronuclear myopathy

Neurology, 2004-05, Vol.62 (9), p.1484-1490

2004

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Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clinical genetics, 2011-10, Vol.80 (4), p.398-402

2011

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Hirayama disease associated with a severe rhythmic movement disorder involving neck flexions

Neurology, 2005-04, Vol.64 (8), p.1478-1479

2005

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Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2017-04, Vol.27 (4), p.307-314

2017

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Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

Neuromuscular disorders : NMD, 2005-04, Vol.15 (4), p.293-298

2005

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Atypical presentation of Prader-Willi syndrome with cerebral venous thrombosis: association or fortuity?

Neuropediatrics, 2007-08, Vol.38 (4), p.204-206

2007

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Cerebellar cleft: confirmation of the neuroimaging pattern

Neuropediatrics, 2009-10, Vol.40 (5), p.228-233

2009

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The role of posterior fossa decompression in acute cerebellitis

Child's nervous system, 2005-11, Vol.21 (11), p.970-974

2005

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Local variability in respiratory syncytial virus disease severity

Archives of disease in childhood, 1997-11, Vol.77 (5), p.410-414

1997

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P296 GLUT1 deficiency with paroxysmal gait, movement and behaviour disorder and mild transient epilepsy

European journal of paediatric neurology, 2009, Vol.13, p.S113-S113

2009

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Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.6-12

2007

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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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Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy

Neurology, 2001-12, Vol.57 (11), p.1963-1968

2001

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Mutations in dynamin 2 cause dominant centronuclear myopathy

Nature genetics, 2005-11, Vol.37 (11), p.1207-1209

2005

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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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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Journal of neurology, 2014, Vol.261 (1), p.152-163

2014

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Recent skin injuries in children with motor disabilities

Archives of disease in childhood, 2010-05, Vol.95 (5), p.387-390

2010

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Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease

Human molecular genetics, 2011-05, Vol.20 (10), p.2079-2079

2011

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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.694-694

2011

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Transient dystonic toe-walking: differentiation from cerebral palsy and a rare explanation for some unexplained cases of idiopathic toe-walking

Developmental medicine and child neurology, 2006-02, Vol.48 (2), p.96-102

2006

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Pediatrics

Revue médicale suisse, 2009-01, Vol.5 (185), p.53

2009

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Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Neuropediatrics, 2010, Vol.41 (2)

2010

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Pediatrics

Revue médicale suisse, 2008-01, Vol.4 (139), p.61

2008

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Neuroimaging in childhood arterial ischaemic stroke: evaluation of aetiologies and imaging modalities

Neuropediatrics, 2008, Vol.39 (1)

2008

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120 Intranasal or sublingual midazolam for treating acute seizures in children at home

European journal of paediatric neurology, 1999, Vol.3 (6), p.A36-A36

1999

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Clinical and histologic findings in autosomal centronuclear myopathy

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Hirayama disease associated with a severe rhythmic movement disorder involving neck flexions

Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

Atypical presentation of Prader-Willi syndrome with cerebral venous thrombosis: association or fortuity?

Cerebellar cleft: confirmation of the neuroimaging pattern

The role of posterior fossa decompression in acute cerebellitis

Local variability in respiratory syncytial virus disease severity

P296 GLUT1 deficiency with paroxysmal gait, movement and behaviour disorder and mild transient epilepsy

Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy

Mutations in dynamin 2 cause dominant centronuclear myopathy

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

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Recent skin injuries in children with motor disabilities

Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Transient dystonic toe-walking: differentiation from cerebral palsy and a rare explanation for some unexplained cases of idiopathic toe-walking

Pediatrics

Differences in risk-factors, aetiology and outcome between children and young adults with acute ischaemic stroke

Pediatrics

Neuroimaging in childhood arterial ischaemic stroke: evaluation of aetiologies and imaging modalities

120 Intranasal or sublingual midazolam for treating acute seizures in children at home

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