I. Vuillaume

发表

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

K. Dujardin, A. Destée, D. Devos, 2008, The Cerebellum.

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

I Vuillaume, K. Dujardin, A. Destée, 2001, Neurology.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes

L. Defebvre, A. Destée, M. Lemaître, 2006, Movement disorders : official journal of the Movement Disorder Society.

Pneumatic transport is critical for leukaemic patients with major leukocytosis: what precautions to measure lactate dehydrogenase, potassium and aspartate aminotransferase?

P. Maboudou, C. Berthon, D. Launay, 2010, Annals of clinical biochemistry.

Real time RT-PCR shows correlation between retinoid-induced apoptosis and NGF-R mRNA levels.

S. Schraen-Maschke, B. Sablonnière, P. Formstecher, 2001, Biochemical and biophysical research communications.

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

C. Procaccini, G. Matarese, G. De Michele, 2015, Journal of Neurology.

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1

Christian Dina, Arnaud Lemainque, Francis Vasseur, 2002, Annals of neurology.

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation.

L. Defebvre, A. Destée, D. Devos, 2012, Parkinsonism & related disorders.

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington’s disease

A. Destée, P. Vermersch, H. Petit, 1998, Journal of neurology, neurosurgery, and psychiatry.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

M. Vidailhet, A. Durr, M. Polak, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor‐1 mutation

D. Devos, R. Inzelberg, I. Vuillaume, 2008, Movement disorders : official journal of the Movement Disorder Society.

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype

A. Destée, S. Schraen-Maschke, B. Sablonnière, 2000, Journal of neurology, neurosurgery, and psychiatry.

[Interferences by a monoclonal IgM in biochemical analyses: detection and recommendations].

A. Baras, P. Maboudou, V. Coiteux, 2007, Annales de Biologie Clinique.

Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial

L. Defebvre, K. Dujardin, A. Destée, 2012, The Lancet Neurology.

Attenuated presentation of ataxia-telangiectasia with familial cancer history

L. Defebvre, A. Destée, D. Devos, 2008, Journal of Neurology.

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.

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

S. Klebe, P. Vermersch, A. Durr, 2007, Neurogenetics.

Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

D. Devos, F. Santorelli, I. Vuillaume, 2011, The Cerebellum.

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

A. Destée, D. Devos, P. Chinnery, 2008, Brain : a journal of neurology.

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease

A. Destée, F. Pasquier, B. Sablonnière, 2002, Neuroscience Letters.

‘Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood’

L. Vallée, S. Auvin, V. des Portes, 2008, Developmental medicine and child neurology.

Quintuplets after a transfer of two embryos following in vitro fertilization: a proved superfecundation.

J. Andrieux, M. Leroy, M. Peigné, 2011, Fertility and sterility.

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

L. Defebvre, L. Buée, A. Dürr, 2009, Neurobiology of Disease.

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2012, The Cerebellum.

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2011, The Cerebellum.

Reversal of head drop after discontinuation of olanzapine in a DLB patient

D. Devos, R. Inzelberg, I. Vuillaume, 2008, Movement disorders : official journal of the Movement Disorder Society.

Simple Nonisotopic Assays for Detection of (CAG)n Repeats Expansions Associated With Seven Neurodegenerative Disorders

I Vuillaume, B. Sablonnière, B Sablonnière, 1998, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

High concentrations of lithium heparin decrease measured serum sodium in some analyzers.

L. Storme, T. Rakza, N. Kacet, 1999, Clinical Chemistry.