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CANVAS, a sensory neuronopathy to look for in ataxia

Revue neurologique, 2023-10, Vol.179 (8), p.910-913

2023

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Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndrome

Revue neurologique, 2022-03, Vol.178 (3), p.263-265

2022

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Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

Cephalalgia, 2008-07, Vol.28 (7), p.774-777

2008

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Hereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy

Revue neurologique, 2018-09, Vol.174 (7-8), p.575-577

2018

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Development of an Objective Structured Clinical Examination (OSCE) to evaluate the diagnosis announcement of chronic neurological disease by residents in neurology

Revue neurologique, 2024-09, Vol.180 (7), p.655-660

2024

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Accident vasculaire cérébral ischémique et cornée verticillée révélant une maladie de Fabry chez une femme

Revue neurologique, 2012-02, Vol.168 (2), p.181-186

2012

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Génétique de la maladie d’Alzheimer : formes autosomiques dominantes

Revue neurologique, 2009-03, Vol.165 (3), p.223-231

2009

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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Molecular psychiatry, 2017-08, Vol.22 (8), p.1119-1125

2017

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Acute hemichorea revealing atrial flutter

Journal of postgraduate medicine (Bombay), 2019-01, Vol.65 (1), p.50-51

2019

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The wide POLG -related spectrum: An integrated view

Journal of the neurological sciences, 2016-09, Vol.368, p.70-76

2016

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Familial intracranial aneurysm, the relationship of the aortic diameter

Neuro-chirurgie, 2015-12, Vol.61 (6), p.385-391

2015

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Neurology, 2013-01, Vol.80 (2), p.181

2013

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Brain (London, England : 1878), 2009-06, Vol.132 (6), p.1589-1600

2009

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Dissections artérielles cervicales multiples chez deux frères : dysplasie fibro-musculaire ou maladie du tissu conjonctif ?

Revue neurologique, 2008-09, Vol.164, p.F211-F215

2008

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Tangier disease phenotype diversity in dizygous twin sisters

Revue neurologique, 2010-05, Vol.166 (5), p.534-537

2010

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Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations

Neurology, 2008-03, Vol.70 (13), p.1010

2008

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Valosin-containing protein gene mutations: clinical and neuropathologic features

Neurology, 2006-08, Vol.67 (4), p.644

2006

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Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family

Acta neuropathologica, 2005-07, Vol.110 (1), p.84-92

2005

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Neurology, 2009-10, Vol.73 (14), p.1111

2009

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PRRT2 mutations cause hemiplegic migraine

Neurology, 2012-11, Vol.79 (21), p.2122

2012

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Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

Journal of medical genetics, 2005-10, Vol.42 (10), p.793-795

2005

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Variations in the APP gene promoter region and risk of Alzheimer disease

Neurology, 2007-02, Vol.68 (9), p.684

2007

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Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Journal of medical genetics, 2006-05, Vol.43 (5), p.394-400

2006

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Alzheimer disease: autosomal dominant forms

Revue neurologique, 2009-03, Vol.165 (3), p.223-231

2009

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Stroke and cornea verticillata revealing Fabry's disease in a female

Revue neurologique, 2012-02, Vol.168 (2), p.181-186

2012

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CANVAS, a sensory neuronopathy to look for in ataxia

Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndrome

Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

Hereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy

Development of an Objective Structured Clinical Examination (OSCE) to evaluate the diagnosis announcement of chronic neurological disease by residents in neurology

Accident vasculaire cérébral ischémique et cornée verticillée révélant une maladie de Fabry chez une femme

Génétique de la maladie d’Alzheimer : formes autosomiques dominantes

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Acute hemichorea revealing atrial flutter

The wide POLG -related spectrum: An integrated view

Familial intracranial aneurysm, the relationship of the aortic diameter

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Dissections artérielles cervicales multiples chez deux frères : dysplasie fibro-musculaire ou maladie du tissu conjonctif ?

Tangier disease phenotype diversity in dizygous twin sisters

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations

Valosin-containing protein gene mutations: clinical and neuropathologic features

Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

PRRT2 mutations cause hemiplegic migraine

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

Variations in the APP gene promoter region and risk of Alzheimer disease

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Alzheimer disease: autosomal dominant forms

Stroke and cornea verticillata revealing Fabry's disease in a female

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