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Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies

European journal of neurology, 2021-02, Vol.28 (2), p.660-669

2021

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Respiratory care in neuromuscular disorders

Handbook of Clinical Neurology, 2013, Vol.113, p.1485-1490

Estournet, B.

2013

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Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy

Revue neurologique, 2012-12, Vol.168 (12), p.902-909

2012

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Long-term noninvasive mechanical ventilation for children at home: A national survey

Pediatric pulmonology, 2003-02, Vol.35 (2), p.119-125

2003

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La trachéotomie : face à l’urgence des troubles physiques, émergence de troubles psychiques

Neuropsychiatrie de l'enfance et de l'adolescence, 2014-12, Vol.62 (8), p.521-525

2014

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Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2014-04, Vol.21 (4), p.347-354

2014

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Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 2003-01, Vol.8 (1), p.41-49

2003

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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Human molecular genetics, 2014-05, Vol.23 (9), p.2279-2289

2014

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A neonatal case of immunoallergic acute interstitial nephritis

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-11, Vol.17 (11), p.1559-1561

2010

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Néphropathie interstitielle aiguë immunoallergique néonatale : à propos d’un cas

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-11, Vol.17 (11), p.1559-1561

2010

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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

Neurology, 2006-07, Vol.67 (1), p.120-124

2006

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Ventilation non invasive et pathologies chroniques : intérêt, indications et modalités de la VNI chez les patients neuromusculaires

Archives de pédiatrie (Paris), 2009-06, Vol.16 (6), p.755-757

Estournet-Mathiaud, B.

2009

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Non invasive ventilation in neuromuscular diseases in children: clinical indications and management

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2009-06, Vol.16 (6), p.755-757

Estournet-Mathiaud, B

2009

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134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2005-11, Vol.15 (11), p.802-816

2005

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Nature genetics, 2001-09, Vol.29 (1), p.17-18

2001

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G.P.282 - Launching the first clinical trial in SEPN1-related myopathy: The SELNAC study

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S270-S270

2015

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Prognostic value of evoked potentials and sleep recordings in the prolonged comatose state of children. Preliminary data

Neurophysiologie clinique, 2001-10, Vol.31 (5), p.283-292

2001

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P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S81-S82

2019

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Congenital myasthenia syndromes: clinical description of a pediatric cohort

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S221

2017

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P.415 - Congenital myasthenia syndromes: clinical description of a pediatric cohort

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S221-S221

2017

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PO-0307Paediatric Carbon Monoxide Poisoning In The Ile De France Region, Link Between Hbco Level And Clinical Presentation

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A344-A345

2014

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PO-0307 Paediatric Carbon Monoxide Poisoning In The Ile De France Region, Link Between Hbco Level And Clinical Presentation

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A344-A345

2014

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Paediatric carbon monoxide poisoning in the Ile De France Region, link between Hbco level and clinical presentation

Archives of disease in childhood, 2014-10, Vol.99 (10), p.A344

2014

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G.P.162 - Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S233-S233

2015

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Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies

Respiratory care in neuromuscular disorders

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy

Long-term noninvasive mechanical ventilation for children at home: A national survey

La trachéotomie : face à l’urgence des troubles physiques, émergence de troubles psychiques

Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods

Spinal penetration index: new three-dimensional quantified reference for lordoscoliosis and other spinal deformities

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

A neonatal case of immunoallergic acute interstitial nephritis

Néphropathie interstitielle aiguë immunoallergique néonatale : à propos d’un cas

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

Ventilation non invasive et pathologies chroniques : intérêt, indications et modalités de la VNI chez les patients neuromusculaires

Non invasive ventilation in neuromuscular diseases in children: clinical indications and management

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

G.P.282 - Launching the first clinical trial in SEPN1-related myopathy: The SELNAC study

Prognostic value of evoked potentials and sleep recordings in the prolonged comatose state of children. Preliminary data

P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness

Congenital myasthenia syndromes: clinical description of a pediatric cohort

P.415 - Congenital myasthenia syndromes: clinical description of a pediatric cohort

PO-0307Paediatric Carbon Monoxide Poisoning In The Ile De France Region, Link Between Hbco Level And Clinical Presentation

PO-0307 Paediatric Carbon Monoxide Poisoning In The Ile De France Region, Link Between Hbco Level And Clinical Presentation

Paediatric carbon monoxide poisoning in the Ile De France Region, link between Hbco level and clinical presentation

G.P.162 - Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers

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