L. Guyant‐Maréchal

发表

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

A. Durr, S. Forlani, A. Brice, 2009, Brain : a journal of neurology.

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

L. Defebvre, J. Pariente, O. Martinaud, 2013, Neurology.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

F. Rivier, F. Chapon, C. Richelme, 2019, Orphanet Journal of Rare Diseases.

Familial intracranial aneurysm, the relationship of the aortic diameter.

D. Hannequin, H. Cebula, L. Guyant‐Maréchal, 2015, Neuro-Chirurgie.

Movement disorders and Creutzfeldt-Jakob disease: a review.

D. Hannequin, D. Maltête, L. Guyant‐Maréchal, 2006, Parkinsonism & related disorders.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

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

J. Lambert, P. Amouyel, D. Campion, 2007, Neurology.

Morphological features in juvenile Huntington disease associated with cerebellar atrophy — magnetic resonance imaging morphometric analysis

L. Guyant‐Maréchal, E. Gerardin, P. Vivier, 2018, Pediatric Radiology.

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

A. Durr, J. Melki, S. Hanein, 2009, Neurology.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

P. Derambure, P. Fergelot, S. Rheims, 2021, Orphanet Journal of Rare Diseases.

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

D. Campion, D. Hannequin, A. Brice, 2005, Journal of Medical Genetics.

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

J. Hauw, D. Campion, D. Hannequin, 2005, Acta Neuropathologica.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

D. Hannequin, M. Didic, S. Forlani, 2018, Neurobiology of Aging.

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

I. Nelson, A. Toutain, J. Deleuze, 2020, European journal of medical genetics.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

L. Kremer, A. Verloes, A. Echaniz-Laguna, 2019, neurogenetics.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

P. Vermersch, M. Giroud, M. Clanet, 2015, Brain : a journal of neurology.

Hemidystonia as initial manifestation of sporadic Creutzfeldt–Jakob disease

D. Hannequin, A. Laquérriere, D. Maltête, 2006, European journal of neurology.

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

D. Hannequin, L. Guyant‐Maréchal, D. Parain, 2008, Cephalalgia : an international journal of headache.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack

N. Chastan, L. Guyant‐Maréchal, D. Parain, 2016, Neurophysiologie Clinique/Clinical Neurophysiology.

Diagnostic et prise en charge d’un syndrome tremblement-ataxie lié à une prémutation de l’X fragile : le syndrome FXTAS

D. Maltête, L. Guyant‐Maréchal, R. Lefaucheur, 2017 .

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Chorea in an 83‐Year‐Old Woman: Don't Forget Huntington's Disease

D. Wallon, D. Maltête, L. Guyant‐Maréchal, 2012, Journal of the American Geriatrics Society.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

E. Malfatti, N. Romero, R. Carlier, 2017, Neuromuscular Disorders.

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

M. Dichgans, M. Amador, H. Chabriat, 2015, Brain : a journal of neurology.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

L. Defebvre, J. Pariente, M. Vérin, 2013, Brain : a journal of neurology.

Phenotype associated with APP duplication in five families.

Florence Pasquier, Didier Hannequin, Thierry Frebourg, 2006, Brain : a journal of neurology.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

A. Montpetit, G. Bourque, J. Pariente, 2015, European Journal of Human Genetics.

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

R Redon, R. Redon, M. Bihoreau, 2017, Molecular Psychiatry.

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

R. Rodenburg, G. Bassez, B. V. van Engelen, 2020, Brain : a journal of neurology.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

FXTAS

M. Vidailhet, P. Pollak, B. Gaymard, 2012, Neurology.

PRRT2 mutations cause hemiplegic migraine

C. Depienne, A. Trébuchon, P. Sabouraud, 2012, Neurology.

Unusual cerebrotendinous xanthomatosis with fronto‐temporal dementia phenotype

D. Campion, D. Hannequin, R. Wevers, 2005, American journal of medical genetics. Part A.

Juvenile Huntington disease in an 18‐month‐old boy revealed by global developmental delay and reduced cerebellar volume

D. Hannequin, D. Maltête, L. Guyant‐Maréchal, 2011, American journal of medical genetics. Part A.

Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia

O. Martinaud, D. Campion, D. Hannequin, 2010, British Journal of Psychiatry.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

M. Vidailhet, S. Tezenas du Montcel, J. Houeto, 2005, Journal of Medical Genetics.

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

J. Pariente, F. Pasquier, C. Duyckaerts, 2012, Journal of Alzheimer's disease : JAD.

APP locus duplication causes Alzheimer disease with cerebral amyloid angiopathy

L. Guyant‐Maréchal, 2009, Journal of Neurological Sciences.

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy

F. Chapon, E. Saloux, L. Guyant‐Maréchal, 2017, Journal of clinical neuromuscular disease.

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

A. Destée, P. Burbaud, P. Damier, 2011, Movement disorders : official journal of the Movement Disorder Society.

The wide POLG-related spectrum: An integrated view

P. Amati‐Bonneau, A. Echaniz-Laguna, T. Kuntzer, 2016, Journal of the Neurological Sciences.

Whatever the disease duration, stimulation of the subthalamic nucleus improves Parkin disease.

N. Chastan, D. Maltête, L. Guyant‐Maréchal, 2010, Parkinsonism & related disorders.

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

D. Maltête, T. Maisonobe, L. Guyant‐Maréchal, 2018, Revue neurologique.

Tangier disease phenotype diversity in dizygous twin sisters.

D. Hannequin, L. Guyant‐Maréchal, R. Bittar, 2010, Revue neurologique.

Valosin-containing protein gene mutations

C. Duyckaerts, D. Campion, D. Hannequin, 2006, Neurology.

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

D. Hannequin, D. Wallon, A. Laquérriere, 2010, Clinical neuropathology.

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

A. Durr, D. Hannequin, P. Ribai, 2011, Movement disorders : official journal of the Movement Disorder Society.

Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

A. Laquérriere, L. Guyant‐Maréchal, J. Boffa, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

M. Ruberg, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

L. Guyant‐Maréchal, S. Bekri, C. Acquaviva, 2021, Diagnostics.

Delayed‐onset Friedreich's ataxia revisited

M. Koenig, W. Meissner, A. Eusebio, 2016, Movement disorders : official journal of the Movement Disorder Society.

Phenotype and imaging features associated with APP duplications

J. Pariente, C. Duyckaerts, D. Campion, 2023, Alzheimer's Research & Therapy.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

L. Kremer, A. Verloes, A. Echaniz-Laguna, 2019, neurogenetics.

EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset

A. Echaniz-Laguna, T. Kuntzer, L. Guyant‐Maréchal, 2023, Journal of the peripheral nervous system : JPNS.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Myoclonus–dystonia

A. Durr, A. Dürr, A. Brice, 2008, Neurology.

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

L. Guyant‐Maréchal, F. Riant, Axel Lebas, 2008, Cephalalgia : an international journal of headache.