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Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Revue neurologique, 2015-06, Vol.171 (6-7), p.505-530

2015

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Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies

Revue neurologique, 2024-05, Vol.180 (5), p.383-392

2024

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De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Neurology, 2010-09, Vol.75 (11), p.967

2010

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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

Journal of medical genetics, 2009-03, Vol.46 (3), p.183-191

2009

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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Clinical genetics, 2018-03, Vol.93 (3), p.567-576

2018

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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Journal of medical genetics, 2010-06, Vol.47 (6), p.404-410

2010

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Epilepsy genetics: The ongoing revolution

Revue neurologique, 2015-06, Vol.171 (6-7), p.539-557

2015

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Utilization of Microsatellite Polymorphism for Differentiating Herpes Simplex Virus Type 1 Strains

Journal of Clinical Microbiology, 2009-03, Vol.47 (3), p.533-540

2009

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Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations

Neurology, 2009-03, Vol.72 (13), p.1178

2009

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A novel DCC mutation and genetic heterogeneity in congenital mirror movements

Neurology, 2011-01, Vol.76 (3), p.260

2011

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Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p

Neurology, 2010-06, Vol.74 (24), p.2000

2010

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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

Translational psychiatry, 2012-10, Vol.2 (10), p.e179-e179

2012

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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Journal of medical genetics, 2007-04, Vol.44 (4), p.281-284

2007

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Autism, language delay and mental retardation in a patient with 7q11 duplication

Journal of medical genetics, 2007-07, Vol.44 (7), p.452-458

2007

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Unusual consequences of status epilepticus in Dravet syndrome

Seizure (London, England), 2010-04, Vol.19 (3), p.190-194

2010

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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Neurology, 2006-01, Vol.66 (1), p.112

2006

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A rare case of SPG11 mutation with multiple sclerosis

Revue neurologique, 2016-06, Vol.172 (6-7), p.389-391

2016

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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

Neurology, 2006-03, Vol.66 (5), p.654

2006

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Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

Journal of medical genetics, 2006-03, Vol.43 (3), p.259-265

2006

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Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication

European journal of paediatric neurology, 2017-06, Vol.21, p.e43-e43

2017

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Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

Molecular and cellular neuroscience, 2007-05, Vol.35 (1), p.1-13

2007

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Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

European journal of neurology, 2013-02, Vol.20 (2), p.398-401

2013

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K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy

Clinical neurophysiology, 2008-10, Vol.119 (10), p.2201-2204

2008

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Microsatellite analysis of HSV-1 isolates: From oropharynx reactivation toward lung infection in patients undergoing mechanical ventilation

Journal of clinical virology, 2010-04, Vol.47 (4), p.313-320

2010

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Épisodes sensitifs et/ou moteurs brachiofaciaux prolongés, associés à une mutation de SCN1A : un nouveau sous-type de canalopathie du SNC

Revue neurologique, 2013-04, Vol.169, p.A16-A16

2013

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Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Epilepsy genetics: The ongoing revolution

Utilization of Microsatellite Polymorphism for Differentiating Herpes Simplex Virus Type 1 Strains

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations

A novel DCC mutation and genetic heterogeneity in congenital mirror movements

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Autism, language delay and mental retardation in a patient with 7q11 duplication

Unusual consequences of status epilepticus in Dravet syndrome

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

A rare case of SPG11 mutation with multiple sclerosis

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy

Microsatellite analysis of HSV-1 isolates: From oropharynx reactivation toward lung infection in patients undergoing mechanical ventilation

Épisodes sensitifs et/ou moteurs brachiofaciaux prolongés, associés à une mutation de SCN1A : un nouveau sous-type de canalopathie du SNC

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