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Sandrine Tardieu

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Marion Yger; Yves Alembik; Alexis Brice; Cécile Cazeneuve; Andoni Echaniz-Laguna; Samantha Girard; Eric LeGuern; Thierry Maisonobe; Tanya Stojkovic; Sandrine Tardieu; Odile Dubourg
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Helmut Rauschka; Benoît Colsch; Nicole Baumann; R Wevers; Manfred Schmidbauer; M Krammer; Jean-Claude Turpin; Mireille Lefevre; C Olivier; Sandrine Tardieu; William Krivit; H Moser; Ann B Moser; Volkmar Gieselmann; Bernard Zalc; T Cox; U Reuner; Anna Tylki-Szymanska; Fahmy Aboul-Enein; Eric LeGuern; Hanno Bernheimer; Johannes Berger
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Mourad Naïmi; Sandrine Tardieu; Christel Depienne; Merle Ruberg; Alexis Brice; Odile Dubourg; Eric LeGuern
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

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All Publications

2012: Marion Yger; Yves Alembik; Alexis Brice; Cécile Cazeneuve; Andoni Echaniz-Laguna; Samantha Girard; Eric LeGuern; Thierry Maisonobe; Tanya Stojkovic; Sandrine Tardieu; Odile Dubourg
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Journal of the peripheral nervous system : JPNS 2012;17(1):112-22.
2006: Helmut Rauschka; Benoît Colsch; Nicole Baumann; R Wevers; Manfred Schmidbauer; M Krammer; Jean-Claude Turpin; Mireille Lefevre; C Olivier; Sandrine Tardieu; William Krivit; H Moser; Ann B Moser; Volkmar Gieselmann; Bernard Zalc; T Cox; U Reuner; Anna Tylki-Szymanska; Fahmy Aboul-Enein; Eric LeGuern; Hanno Bernheimer; Johannes Berger
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Neurology 2006;67(5):859-63.
2005: Mourad Naïmi; Sandrine Tardieu; Christel Depienne; Merle Ruberg; Alexis Brice; Odile Dubourg; Eric LeGuern
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
American journal of medical genetics. Part A 2005;136(2):136-9.
2004: Christophe Verny; Nicole Ravisé; Anne-Louise Leutenegger; F Pouplard; Odile Dubourg; Sandrine Tardieu; Frédéric Dubas; Alexis Brice; Emmanuelle Genin; Eric LeGuern
Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Neurology 2004;63(8):1527-9.
2003: Nicole Ravisé; Odile Dubourg; Sandrine Tardieu; Françoise Aurias; Monique Mercadiel; Philippe Coullin; Merle Ruberg; Martin Catala; Sylvie Lesourd; Alexis Brice; Eric LeGuern
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.
American journal of medical genetics. Part A 2003;118A(1):43-8.
2002: Sylvie Dejager; H Bry-Gauillard; Eric Bruckert; B Eymard; F Salachas; Eric LeGuern; Sandrine Tardieu; Rita Chadarevian; Philippe Giral; Gérard Turpin
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.
The Journal of clinical endocrinology and metabolism 2002;87(8):3893-901.
2002: Hiroto Fujigasaki; Sandrine Tardieu; Agnès Camuzat; Giovanni Stevanin; Eric LeGuern; Tohru Matsuura; Tetsuo Ashizawa; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxia type 10 in the French population.
Annals of neurology 2002;51(3):408-9.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2001;124(Pt 10):1958-67.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
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.
Neuromuscular disorders : NMD 2001;11(5):458-63.
2001: Veronique Pingault; Nadege Bondurand; C Le Caignec; Sandrine Tardieu; Nicole Lemort; Odile Dubourg; Eric Le Guern; Michel Goossens; O Boespflug-Tanguy
The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders.
Journal of neurology 2001;248(6):496-9.
2000: Rafaëlle Bernard; Véronique Labelle; P Negre; Sandrine Tardieu; J P Azulay; Perrine Malzac; J F Mattéi; Eric LeGuern; Nicole Philip; Nicolas Lévy
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.
European journal of human genetics : EJHG 2000;8(3):229-35.
1999: J Lopes; Sandrine Tardieu; K Silander; I Blair; Antoon Vandenberghe; Francesc Palau; Merle Ruberg; Alexis Brice; Eric LeGuern
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.
Human molecular genetics 1999;8(12):2285-92.
1999: P Mouton; Sandrine Tardieu; Riadh Gouider; Nazha Birouk; Thierry Maisonobe; Odile Dubourg; Alexis Brice; Eric LeGuern; Pierre Bouche
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.
Neurology 1999;52(7):1440-6.
1998: Nazha Birouk; Eric LeGuern; Thierry Maisonobe; H Rouger; Riadh Gouider; Sandrine Tardieu; M Gugenheim; MC Routon; Jean-Marc Léger; Yves Agid; Alexis Brice; Pierre Bouche
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Neurology 1998;50(4):1074-82.
1998: Farid Meggouh; Ali Benomar; H Rouger; Sandrine Tardieu; Nazha Birouk; JP Tassin; C Barhoumi; Mohamed Yahyaoui; Taïeb Chkili; Alexis Brice; Eric LeGuern
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Journal of medical genetics 1998;35(3):251-2.
1997: J Lopes; Antoon Vandenberghe; Sandrine Tardieu; V Ionasescu; Nicolas Lévy; Nicholas W Wood; N Tachi; Pierre Bouche; Philippe Latour; Alexis Brice; Eric LeGuern
Sex-dependent rearrangements resulting in CMT1A and HNPP.
Nature genetics 1997;17(2):136-7.
1997: Nazha Birouk; Riadh Gouider; Eric Le Guern; M Gugenheim; Sandrine Tardieu; Thierry Maisonobe; Nadine Le Forestier; Yves Agid; Alexis Brice; Pierre Bouche
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
Brain : a journal of neurology 1997;120 ( Pt 5)():813-23.
1997: H Rouger; Eric LeGuern; Nazha Birouk; Riadh Gouider; Sandrine Tardieu; Emmanuelle Plassart-Schiess; M Gugenheim; Jean-Michel Vallat; Jean-Pierre Louboutin; Pierre Bouche; Yves Agid; Alexis Brice
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Human mutation 1997;10(6):443-52.
1997: Eric LeGuern; Riadh Gouider; D Mabin; Sandrine Tardieu; Nazha Birouk; P Parent; Pierre Bouche; Alexis Brice
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
Annals of neurology 1997;41(1):104-8.
1996: J Lopes; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nacer Abbas; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
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.
American journal of human genetics 1996;58(6):1223-30.
1996: H Rouger; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
American journal of human genetics 1996;58(3):638-41.
1996: Eric LeGuern; Riadh Gouider; Nicole Ravisé; J Lopes; Sandrine Tardieu; M Gugenheim; Nacer Abbas; Pierre Bouche; Yves Agid; Alexis Brice
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Human molecular genetics 1996;5(1):103-6.
1995: Jordi Pérez-Tur; Dominique Campion; M Martinez; Alexis Brice; Sandrine Tardieu; Didier Hannequin; Yves Agid; André Delacourte; Françoise Clerget-Darpoux; Marie-Christine Chartier-Harlin
Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.
American journal of medical genetics 1995;60(6):550-3.
1995: Didier Hannequin; Dominique Campion; Sandrine Tardieu; Pascal Auzou; M Martinez; Bruno Dubois; Françoise Clerget-Darpoux; Yves Agid; Alexis Brice
[Phenotype of familial forms of early-onset Alzheimer's disease linked to chromosome 14. Clinical and neuropsychological characteristics of a large group].
Revue neurologique 1995;151(12):682-90.
1995: Dominique Campion; Jean-Michel Flaman; Alexis Brice; Didier Hannequin; Bruno Dubois; Cosette Martin; V Moreau; Frédéric Charbonnier; O Didierjean; Sandrine Tardieu
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics 1995;4(12):2373-7.
1995: Riadh Gouider; Eric LeGuern; M Gugenheim; Sandrine Tardieu; Thierry Maisonobe; Jean-Marc Léger; Jean-Michel Vallat; Yves Agid; Pierre Bouche; Alexis Brice
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.
Neurology 1995;45(11):2018-23.
1995: Eric LeGuern; Riadh Gouider; J Lopes; Nacer Abbas; M Gugenheim; Sandrine Tardieu; Nicole Ravisé; Jean-Marc Léger; Jean-Michel Vallat; Pierre Bouche
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.
Human molecular genetics 1995;4(9):1673-4.
1995: Alexis Brice; Sandrine Tardieu; Dominique Campion; E Le Guern; M Martinez; A Carpentier; C Penet; Bruno Dubois; M Bellis; Jacques Mallet
Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group.
American journal of medical genetics 1995;60(2):91-3.
1995: Dominique Campion; Alexis Brice; Didier Hannequin; Sandrine Tardieu; Bruno Dubois; A Calenda; E Brun; C Penet; J Tayot; M Martinez
A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization.
Neurology 1995;45(1):80-5.
1994: Riadh Gouider; Eric LeGuern; J Emile; Sandrine Tardieu; F Cabon; M Samid; Jean Weissenbach; Yves Agid; Pierre Bouche; Alexis Brice
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.
Neurology 1994;44(12):2250-2.
1994: E Le Guern; Franck Sturtz; M Gugenheim; Riadh Gouider; C Bonnebouche; Nicole Ravisé; P M Gonnaud; Sandrine Tardieu; Pierre Bouche; G Chazot
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).
Cytogenetics and cell genetics 1994;65(4):261-4.