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Congenital and infantile myotonic dystrophy

Handbook of Clinical Neurology, 2013, Vol.113, p.1387-1393

2013

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Study of clinical characteristics in young subjects with Developmental Coordination Disorder

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.538-547

2016

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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Journal of clinical immunology, 2015-02, Vol.35 (2), p.168-181

2015

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Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Pediatric neurology, 2009-09, Vol.41 (3), p.187-191

2009

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Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

American journal of human genetics, 2001-03, Vol.68 (3), p.788-794

2001

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Insights in Developmental Coordination Disorder

Current pediatric reviews, 2017-05, Vol.13 (2)

2017

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Cerebrospinal Fluid Analysis in the Diagnosis and Treatment of Arterial Ischemic Stroke

Pediatric neurology, 2008, Vol.38 (1), p.1-9

2008

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Topiramate Pharmacokinetics in Children with Epilepsy Aged from 6 Months to 4 Years

Epilepsia (Copenhagen), 2004-11, Vol.45 (11), p.1448-1452

2004

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Antiglial Cell Autoantibodies and Childhood Epilepsy: A Case Report

Epilepsia (Copenhagen), 2005-08, Vol.46 (8), p.1308-1312

2005

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Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

Pediatric neurology, 2006-11, Vol.35 (5), p.308-313

2006

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A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Neurology, 2016-01, Vol.86 (2), p.161

2016

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Journal of medical genetics, 2017-12, Vol.54 (12), p.843-851

2017

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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Journal of neurology, neurosurgery and psychiatry, 2015-07, Vol.86 (7), p.782-785

2015

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Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

Journal of neurosurgery, 2004-08, Vol.101 (2), p.189-194

2004

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Cognitive impairment in children with CACNA1A mutations

Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.330-337

2020

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Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus

The Lancet (British edition), 2000-06, Vol.355 (9222), p.2220-2221

2000

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Ataxia with vitamin E deficiency and severe dystonia: report of a case

Brain & development (Tokyo. 1979), 2003-09, Vol.25 (6), p.442-445

2003

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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect

European journal of human genetics : EJHG, 2006-04, Vol.14 (4), p.418-425

2006

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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Journal of medical genetics, 2018-06, Vol.55 (6), p.359-371

2018

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Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

Developmental medicine and child neurology, 2018-12, Vol.60 (12), p.1256-1263

2018

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Benign paroxysmal vertigo of childhood: Long-term outcome

Cephalalgia, 2011-03, Vol.31 (4), p.439-443

2011

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Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

Brain & development (Tokyo. 1979), 2001-12, Vol.23 (8), p.810-814

2001

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Congenital and infantile myotonic dystrophy

Study of clinical characteristics in young subjects with Developmental Coordination Disorder

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

Insights in Developmental Coordination Disorder

Cerebrospinal Fluid Analysis in the Diagnosis and Treatment of Arterial Ischemic Stroke

Topiramate Pharmacokinetics in Children with Epilepsy Aged from 6 Months to 4 Years

Antiglial Cell Autoantibodies and Childhood Epilepsy: A Case Report

Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

Cognitive impairment in children with CACNA1A mutations

Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus

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

Ataxia with vitamin E deficiency and severe dystonia: report of a case

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

Benign paroxysmal vertigo of childhood: Long-term outcome

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

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