Works matching AU Landrieu, Pierre

Results: 19

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 466, doi. 10.1007/s00431-003-1196-9

By:

Tonetti, Carole;
Saudubray, Jean-Marie;
Echenne, Bernard;
Landrieu, Pierre;
Giraudier, Stéphane;
Zittoun, Jacqueline

Publication type:

Article

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 651, doi. 10.1038/sj.ejhg.5200691

By:

Houten, Sander M;
Koster, Janet;
Romeijn, Gerrit-Jan;
Frenkel, Joost;
Di Rocco, Maja;
Caruso, Ubaldo;
Landrieu, Pierre;
Kelley, Richard I;
Kuis, Wietse;
Poll-The, Bwee Tien;
Gibson, K Michael;
Wanders, Ronald J A;
Waterham, Hans R

Publication type:

Article

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200595

By:

Houten, Sander M;
Koster, Janet;
Romeijn, Gerrit-Jan;
Frenkel, Joost;
Di Rocco, Maja;
Caruso, Ubaldo;
Landrieu, Pierre;
Kelley, Richard I;
Kuis, Wietse;
Poll-The, Bwee Tien;
Gibson, K Michael;
Wanders, Ronald JA;
Waterham, Hans R

Publication type:

Article

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200476

By:

Cavalier, Laurent;
BenHamida, Christiane;
Amouri, Rim;
Belal, Samir;
Bomont, Pascale;
Lagarde, Nadège;
Gressin, Laëtitia;
Callen, David;
Demir, Ercan;
Topaloglu, Haluk;
Landrieu, Pierre;
Ioos, Catherine;
Hamida, Mongi Ben;
Kœnig, Michel;
Hentati, Fayçal

Publication type:

Article

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 370, doi. 10.1038/81701

By:

Bomont, Pascale;
Cavalier, Laurent;
Blondeau, François;
Hamida, Christiane Ben;
Belal, Samir;
Tazir, Meriem;
Demir, Ercan;
Topaloglu, Haluk;
Korinthenberg, Rudolf;
Tüysüz, Beyhan;
Landrieu, Pierre;
Hentati, Fayçal;
Koenig, Michel

Publication type:

Article

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618

By:

Laquérriere, Annie;
Maluenda, Jérome;
Camus, Adrien;
Fontenas, Laura;
Dieterich, Klaus;
Nolent, Flora;
Zhou, Jié;
Monnier, Nicole;
Latour, Philippe;
Gentil, Damien;
Héron, Delphine;
Desguerres, Isabelle;
Landrieu, Pierre;
Beneteau, Claire;
Delaporte, Benoit;
Bellesme, Céline;
Baumann, Clarisse;
Capri, Yline;
Goldenberg, Alice;
Lyonnet, Stanislas

Publication type:

Article

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375

By:

Nguyen, Huy Hoang;
Pham, Van Anh;
Barcia, Giulia;
Malan, Valérie;
Nguyen, Kiem Lien Thi;
Ngo, Diem Ngoc;
Nguyen, Thu Hien;
Landrieu, Pierre;
Colleaux, Laurence;
Nong, Van Hai;
Nguyen, Lam Son

Publication type:

Article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1753

By:

Clot, Fabienne;
Grabli, David;
Cazeneuve, CÃ©cile;
Roze, Emmanuel;
Castelnau, Pierre;
Chabrol, Brigitte;
Landrieu, Pierre;
Nguyen, Karine;
Ponsot, GÃ©rard;
Abada, Myriem;
Doummar, Diane;
Damier, Philippe;
Gil, Roger;
Thobois, StÃ©phane;
Ward, Alana J.;
Hutchinson, Michael;
Toutain, Annick;
Picard, Fabienne;
Camuzat, AgnÃ¨s;
Fedirko, Estelle

Publication type:

Article

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental 'neural crest syndrome' related to a SOX10 mutation.

Published in:

Annals of Neurology, 2000, v. 48, n. 4, p. 671, doi. 10.1002/1531-8249(200010)48:4<671::AID-ANA17>3.0.CO;2-8

By:

Pingault, Véronique;
Guiochon-Mantel, Anne;
Bondurand, Nadège;
Faure, Christophe;
Lacroix, Catherine;
Lyonnet, Stanislas;
Goossens, Michel;
Landrieu, Pierre

Publication type:

Article

Acute inflammatory demyelinating polyradiculopathy in children: Clinical and electrodiagnostic studies.

Published in:

Annals of Neurology, 1998, v. 44, n. 3, p. 350, doi. 10.1002/ana.410440310

By:

Delanoe, Catherine;
Sebire, Guillaume;
Landrieu, Pierre;
Huault, Gilbert;
Metral, Stéphane

Publication type:

Article

Familial and sporadic forms ofcentral core disease are associated with mutations in the C-terminaldomain of the skeletal muscle ryanodine receptor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 22, p. 2581, doi. 10.1093/hmg/10.22.2581

By:

Monnier, Nicole;
Romero, Norma Beatriz;
Lerale, Joëlle;
Landrieu, Pierre;
Nivoche, Yves;
Fardeau, Michel;
Lunardi, Joël

Publication type:

Article

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192

By:

Metodiev, Metodi D;
Assouline, Zahra;
Landrieu, Pierre;
Chretien, Dominique;
Bader-Meunier, Brigitte;
Guitton, Corinne;
Munnich, Arnold;
Rötig, Agnès

Publication type:

Article

Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

Published in:

Prenatal Diagnosis, 2005, v. 25, n. 4, p. 307, doi. 10.1002/pd.1128

By:

de Laveaucoupet, Jocelyne;
Roffi, Fabio;
Audibert, François;
Guis, Françoise;
Lacroix, Catherine;
Villeneuve, Nathalie;
Landrieu, Pierre;
Labrune, Philippe

Publication type:

Article

Mechanisms underlying a life-threatening skeletal muscle Na.

Published in:

Journal of Physiology, 2011, v. 589, n. 13, p. 3115, doi. 10.1113/jphysiol.2011.207977

By:

Simkin, Dina;
Léna, Isabelle;
Landrieu, Pierre;
Lion-François, Laurence;
Sternberg, Damien;
Fontaine, Bertrand;
Bendahhou, Saïd

Publication type:

Article

Aphasia Owing to Subcortical Brain Infarcts in Childhood.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 12, p. 1003, doi. 10.1177/08830738050200121401

By:

Gout, Ariel;
Seibel, Nathalie;
Rouvière, Constance;
Husson, Béatrice;
Hermans, Brigitte;
Laporte, Nicole;
Kadhim, Hazim;
Grandin, Cécile;
Landrieu, Pierre;
Sébire, Guillaume

Publication type:

Article

Acute Transverse Myelitis in Children: Clinical Course and Prognostic Factors.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 6, p. 401, doi. 10.1177/08830738030180060601

By:

Defresne, Pierre;
Hollenberg, Henri;
Husson, Béatrice;
Tabarki, Brahim;
Landrieu, Pierre;
Huault, Gilbert;
Tardieu, Marc;
Sébire, Guillaume

Publication type:

Article

Stroke in Childhood: Outcome and Recurrence Risk by Mechanism in 59 Patients.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 5, p. 290

By:

Chabrier, Stephanie;
Husson, Beatrice;
Lasjaunias, Pierre;
Landrieu, Pierre;
Tardieu, Marc

Publication type:

Article

Transient Cerebral Arteriopathy: A Disorder Recognized by Serial Angiograms in Children With Stroke.

Published in:

Journal of Child Neurology, 1998, v. 13, n. 1, p. 27

By:

Chabrier, Stephane;
Rosdesch, Georges;
Lasjaunias, Pierre;
Tardieu, Marc;
Landrieu, Pierre;
Sebire, Guillaume

Publication type:

Article

Refractory anaemia and mitochondrial cytopathy in childhood.

Published in:

British Journal of Haematology, 1994, v. 87, n. 2, p. 381, doi. 10.1111/j.1365-2141.1994.tb04926.x

By:

Bader-Meunier, Brigitte;
ROutig, Agnes;
Mielot, Francoise;
Lavergne, Jean Maurice;
Croisille, Laure;
Rustin, Pierre;
Landrieu, Pierre;
Dommergues, Jean Paul;
Munnich, Arnold;
Tchernia, Gil

Publication type:

Article