S. Tardieu

发表

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Y. Agid, A. Brice, N. Birouk, 1997, Brain : a journal of neurology.

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Y. Agid, A. Brice, N. Birouk, 1996, American journal of human genetics.

Sex–dependent rearrangements resulting in CMT1A and HNPP

A. Brice, N. Wood, N. Lévy, 1997, Nature Genetics.

Autonomic and respiratory dysfunction in Charcot–Marie–Tooth disease due to Thr124Met mutation in the myelin protein zero gene

P. Vermersch, S. Tardieu, O. Dubourg, 2003, Clinical Neurophysiology.

Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C

A. Brice, C. Cazeneuve, S. Tardieu, 2012, Journal of the peripheral nervous system : JPNS.

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

M. Ruberg, A. Brice, S. Tardieu, 2003, American journal of medical genetics. Part A.

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

A. Brice, N. Birouk, R. Gouider, 2001, Brain : a journal of neurology.

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

A. Brice, N. Birouk, R. Gouider, 2001, Neuromuscular Disorders.

High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

Y. Agid, A. Brice, N. Birouk, 1996 .

Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements

M. Ruberg, C. Depienne, A. Brice, 2005, American journal of medical genetics. Part A.

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A

N. Philip, N. Lévy, S. Tardieu, 2000, European Journal of Human Genetics.

Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

M. Ruberg, K. Silander, A. Brice, 1999, Human molecular genetics.

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

A. Brice, N. Birouk, R. Gouider, 1999, Neurology.

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group.

R. Gouider, M. Gugenheim, S. Tardieu, 1995, Human molecular genetics.

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

G. Chazot, R. Gouider, E. Le Guern, 1994, Cytogenetics and cell genetics.

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

Y. Agid, A. Brice, R. Gouider, 1996, Human molecular genetics.

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

Y. Agid, A. Brice, R. Gouider, 1995, Neurology.

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

A. Brice, N. Birouk, S. Tardieu, 1998, Journal of medical genetics.

Late-onset metachromatic leukodystrophy

H. Moser, A. Moser, N. Baumann, 2006, Neurology.

Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group.

B. Dubois, J. Mallet, D. Campion, 1995, American journal of medical genetics.

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

E. Le Guern, S. Tardieu, O. Dubourg, 2001, Journal of Neurology.

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

B. Dubois, D. Campion, D. Hannequin, 1995, Human molecular genetics.

Familial herpes simplex encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002, Annals of neurology.

Familial Herpes Simplex Encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002 .

A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.

F. Salachas, S. Tardieu, B. Eymard, 2002, The Journal of clinical endocrinology and metabolism.

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations

Y. Agid, A. Brice, N. Birouk, 1998, Neurology.

Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.

Y. Agid, A. Delacourte, D. Campion, 1995, American journal of medical genetics.

A large pedigree with early-onset Alzheimer's disease

Y. Agid, B. Dubois, J. Mallet, 1995, Neurology.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

F. Bombelli, A. Brice, P. Amati‐Bonneau, 2014, JAMA neurology.

Coincidence of two genetic forms of Charcot–Marie–Tooth disease in a single family

E. Génin, A. Brice, S. Tardieu, 2004, Neurology.

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies

J. Weissenbach, Y. Agid, A. Brice, 1994, Neurology.

Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

Y. Agid, A. Brice, N. Birouk, 1997, Human mutation.

Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

Y. Agid, A. Brice, N. Birouk, 1997, Human mutation.