Works by Michel Koenig

Results: 79

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 375, doi. 10.1002/humu.23941

By:

Sasorith, Souphatta;
Baux, David;
Bergougnoux, Anne;
Paulet, Damien;
Lahure, Alan;
Bareil, Corinne;
Taulan‐Cadars, Magali;
Roux, Anne‐Françoise;
Koenig, Michel;
Claustres, Mireille;
Raynal, Caroline

Publication type:

Article

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 31, doi. 10.1002/humu.23671

By:

Vaché, Christel;
Torriano, Simona;
Faugère, Valérie;
Erkilic, Nejla;
Baux, David;
Garcia‐Garcia, Gema;
Hamel, Christian P.;
Meunier, Isabelle;
Zanlonghi, Xavier;
Koenig, Michel;
Kalatzis, Vasiliki;
Roux, Anne‐Françoise

Publication type:

Article

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 184, doi. 10.1002/humu.22926

By:

Liquori, Alessandro;
Vaché, Christel;
Baux, David;
Blanchet, Catherine;
Hamel, Christian;
Malcolm, Sue;
Koenig, Michel;
Claustres, Mireille;
Roux, Anne‐Françoise

Publication type:

Article

Novel dominant distal titinopathy phenotype associated with copy number variation.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1906, doi. 10.1002/acn3.51434

By:

Perrin, Aurélien;
Juntas Morales, Raul;
Chapon, Françoise;
Thèze, Corinne;
Lacourt, Delphine;
Pégeot, Henri;
Uro‐Coste, Emmanuelle;
Giovannini, Diane;
Leboucq, Nicolas;
Mallaret, Martial;
Lagrange, Emmeline;
Rigau, Valérie;
Gaudon, Karen;
Richard, Pascale;
Koenig, Michel;
Métay, Corinne;
Cossée, Mireille

Publication type:

Article

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 846, doi. 10.1002/acn3.51031

By:

Perrin, Aurélien;
Metay, Corinne;
Villanova, Marcello;
Carlier, Robert‐Yves;
Pegoraro, Elena;
Juntas Morales, Raul;
Stojkovic, Tanya;
Richard, Isabelle;
Richard, Pascale;
Romero, Norma B.;
Granzier, Henk;
Koenig, Michel;
Malfatti, Edoardo;
Cossée, Mireille

Publication type:

Article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Published in:

JAMA Neurology, 2018, v. 75, n. 10, p. 1234, doi. 10.1001/jamaneurol.2018.1478

By:

Montaut, Solveig;
Tranchant, Christine;
Drouot, Nathalie;
Rudolf, Gabrielle;
Guissart, Claire;
Tarabeux, Julien;
Stemmelen, Tristan;
Velt, Amandine;
Fourrage, Cécile;
Nitschké, Patrick;
Gerard, Bénédicte;
Mandel, Jean-Louis;
Koenig, Michel;
Chelly, Jamel;
Anheim, Mathieu

Publication type:

Article

Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the AN010 Gene.

Published in:

JAMA Neurology, 2015, v. 72, n. 2, p. 238, doi. 10.1001/jamaneurol.2014.3918

By:

Minnerop, Martina;
Bauer, Peter;
Koenig, Michel;
Tranchant, Christine;
Anheim, Mathieu

Publication type:

Article

Autosomal Recessive Cerebellar Ataxia Type 3 Due to AN010 Mutations.

Published in:

JAMA Neurology, 2014, v. 71, n. 10, p. 1305, doi. 10.1001/jamaneurol.2014.193

By:

Renaud, Mathilde;
Anheim, Mathieu;
Kamsteeg, Erik-Jan;
Mallaret, Martial;
Mochel, Fanny;
Vermeer, Sascha;
Drouot, Nathalie;
Pouget, Jean;
Redin, Claire;
Salort-Campana, Emmanuelle;
Kremer, Hubertus P. H.;
Verschuuren-Bemelmans, Corien C.;
Muller, Jean;
Scheffer, Hans;
Durr, Alexandra;
Tranchant, Christine;
Koenig, Michel

Publication type:

Article

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 986, doi. 10.1038/sj.ejhg.5200586

By:

Bomont, Pascale;
Watanabe, Mitsunory;
Gershoni-Barush, Ruth;
Shizuka, Masami;
Tanaka, Makoto;
Sugano, Jinpei;
Guiraud-Chaumeil, Christophe;
Koenig, Michel

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

Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.

Published in:

European Neurology, 2016, v. 75, n. 3/4, p. 186, doi. 10.1159/000445109

By:

Chamard, Ludivine;
Sylvestre, Géraldine;
Koenig, Michel;
Magnin, Eloi

Publication type:

Article

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677

By:

Anttonen, Anna-Kaisa;
Mahjneh, Ibrahim;
Hämäläinen, Riikka H.;
Lagier-Tourenne, Clotilde;
Kopra, Outi;
Waris, Laura;
Anttonen, Mikko;
Joensuu, Tarja;
Kalimo, Hannu;
Paetau, Anders;
Tranebjaerg, Lisbeth;
Chaigne, Denys;
Koenig, Michel;
Eeg-Olofsson, Orvar;
Udd, Bjarne;
Somer, Mirja;
Somer, Hannu;
Lehesjoki, Anna-Elina

Publication type:

Article

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

Published in:

Nature Genetics, 2001, v. 29, n. 2, p. 189, doi. 10.1038/ng1001-189

By:

Moreira, Maria-Céu;
Barbot, Clara;
Tachi, Nobutada;
Kozuka, Naoki;
Uchida, Eiji;
Gibson, Toby;
Mendonça, Pedro;
Costa, Manuela;
Barros, José;
Yanagisawa, Takayuki;
Watanabe, Mitsunori;
Ikeda, Yoshio;
Aoki, Masashi;
Nagata, Tetsuya;
Coutinho, Paula;
Sequeiros, Jorge;
Koenig, Michel

Publication type:

Article

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Published in:

Nature Genetics, 2001, v. 27, n. 2, p. 181, doi. 10.1038/84818

By:

Puccio, Hélène;
Simon, Delphine;
Cossée, Mireille;
Criqui-Filipe, Paola;
Tiziano, Francesco;
Melki, Judith;
Hindelang, Colette;
Matyas, Robert;
Rustin, Pierre;
Koenig, Michel

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

In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy.

Published in:

1999

By:

Heckel, Sergine;
Favre, Romain;
Flori, Jean;
Koenig, Michel;
Mandel, Jean-Louis;
Gasser, Bernard;
Chaigne, Denis;
Heckel, S;
Favre, R;
Flori, J;
Koenig, M;
Mandel, J;
Gasser, B;
Chaigne, D

Publication type:

journal article

New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831

By:

Salih, Mustafa A.;
Mundwiller, Emeline;
Khan, Arif O.;
AlDrees, Abdulmajeed;
Elmalik, Salah A.;
Hassan, Hamdy H.;
Al-Owain, Mohammed;
Alkhalidi, Hisham M. S.;
Katona, Istvan;
Kabiraj, Mohammad M.;
Chrast, Roman;
Kentab, Amal Y.;
Alzaidan, Hamad;
Rodenburg, Richard J.;
Bosley, Thomas M.;
Weis, Joachim;
Koenig, Michel;
Stevanin, Giovanni;
Azzedine, Hamid

Publication type:

Article

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia.

Published in:

PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006379

By:

Calmels, Nadège;
Schmucker, Stéphane;
Wattenhofer-Donzé, Marie;
Martelli, Alain;
Vaucamps, Nadège;
Reutenauer, Laurence;
Messaddeq, Nadia;
Bouton, Cé cile;
Koenig, Michel;
Puccio, Hélène

Publication type:

Article

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 8, p. 1987, doi. 10.1523/JNEUROSCI.4549-03.2004

By:

Gansmuller, Anne;
Carelle, Nadège;
Weber, Philipp;
Metzger, Daniel;
Rustin, Pierre;
Koenig, Michel;
Puccio, Hélène;
Simon, Delphine;
Seznec, Hervé

Publication type:

Article

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.

Published in:

FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728

By:

Quinzii, Catarina M.;
López, Luis C.;
Gilkerson, Robert W.;
Dora, Beatriz;
Coku, Jorida;
Naini, Ali B.;
Lagier-Tourenne, Clotilde;
Schuelke, Markus;
Salviati, Leonardo;
Carrozzo, Rosalba;
Santorelli, Filippo;
Rahman, Shamima;
Tazir, Meriem;
Koenig, Michel;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Published in:

2019

By:

Guissart, Claire;
Tran Mau Them, Frédéric;
Debant, Vanessa;
Viart, Victoria;
Dubucs, Charlotte;
Pritchard, Victoria;
Rouzier, Cécile;
Boureau-Wirth, Amandine;
Haquet, Emmanuelle;
Puechberty, Jacques;
Bieth, Eric;
Khau Van Kien, Philippe;
Brechard, Marie-Pierre;
Raynal, Caroline;
Girardet, Anne;
Claustres, Mireille;
Koenig, Michel;
Vincent, Marie-Claire;
Tran Mau Them, Frédéric;
Khau Van Kien, Philippe

Publication type:

journal article

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Published in:

2020

By:

Lorea, Cláudia Fernandes;
Tenório, Renata Barreto;
Koenig, Michel;
Huebner, Angela;
Koehler, Katrin;
Devos, David;
Guissart, Claire;
Saute, Jonas Alex Morales

Publication type:

Letter

Iron metabolism in mice with partial frataxin deficiency.

Published in:

Cerebellum, 2003, v. 2, n. 2, p. 146, doi. 10.1080/14734220309408

By:

Santos, Manuela M.;
Miranda, Carlos J.;
Levy, Joanne E.;
Montross, Lynne K.;
Cossée, Mireille;
Sequeiros, Jorge;
Andrews, Nancy;
Koenig, Michel;
Pandolfo, Massimo

Publication type:

Article

Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461

By:

Guissart, Claire;
Xiuju Li;
Leheup, Bruno;
Drouot, Nathalie;
Montaut-Verient, Bettina;
Raffo, Emmanuel;
Jonveaux, Philippe;
Roux, Anne-Françoise;
Claustres, Mireille;
Fliegel, Larry;
Koenig, Michel

Publication type:

Article

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

Published in:

2022

By:

Benkirane, Mehdi;
Cunha, Dylan Da;
Marelli, Cecilia;
Larrieu, Lise;
Renaud, Mathilde;
Varilh, Jessica;
Pointaux, Morgane;
Baux, David;
Ardouin, Olivier;
Vangoethem, Charles;
Taulan, Magali;
Duport, Benjamin Daumas;
Bergougnoux, Anne;
Corbillé, Anne-Gaelle;
Cossée, Mireille;
Morales, Raul Juntas;
Tuffery-Giraud, Sylvie;
Koenig, Michel;
Isidor, Bertrand;
Vincent, Marie-Claire

Publication type:

journal article

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

Published in:

2021

By:

Rebelo, Adriana P;
Eidhof, Ilse;
Cintra, Vivian P;
Guillot-Noel, Léna;
Pereira, Claudia V;
Timmann, Dagmar;
Traschütz, Andreas;
Schöls, Ludger;
Coarelli, Giulia;
Durr, Alexandra;
Anheim, Mathieu;
Tranchant, Christine;
van de Warrenburg, Bart;
Guissart, Claire;
Koenig, Michel;
Howell, Jack;
Moraes, Carlos T;
Schenck, Annette;
Stevanin, Giovanni;
Züchner, Stephan

Publication type:

journal article

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338

By:

Mallaret, Martial;
Synofzik, Matthis;
Lee, Jaeho;
Sagum, Cari A.;
Mahajnah, Muhammad;
Sharkia, Rajech;
Drouot, Nathalie;
Renaud, Mathilde;
Klein, Fabrice A. C.;
Anheim, Mathieu;
Tranchant, Christine;
Mignot, Cyril;
Mandel, Jean-Louis;
Bedford, Mark;
Bauer, Peter;
Salih, Mustafa A.;
Schüle, Rebecca;
Schöls, Ludger;
Aldaz, C. Marcelo;
Koenig, Michel

Publication type:

Article

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2439, doi. 10.1093/brain/awq181

By:

Assoum, Mirna;
Salih, Mustafa A.;
Drouot, Nathalie;
H'Mida-Ben Brahim, Dorra;
Lagier-Tourenne, Clotilde;
AlDrees, Abdulmajeed;
Elmalik, Salah A.;
Ahmed, Taha S.;
Seidahmed, Mohammad Z.;
Kabiraj, Mohammad M.;
Koenig, Michel

Publication type:

Article

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1456, doi. 10.1093/brain/awl012

By:

Stephan Klebe;
Hamid Azzedine;
Alexandra Durr;
Patrick Bastien;
Naima Bouslam;
Nizar Elleuch;
Sylvie Forlani;
Celine Charon;
Michel Koenig;
Judith Melki;
Alexis Brice;
Giovanni Stevanin

Publication type:

Article

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 4, p. 759, doi. 10.1093/brain/awh080

By:

Isabelle Le Ber;
Naïma Bouslam;
Sophie Rivaud‐Péchoux;
João Guimarães;
Ali Benomar;
Céline Chamayou;
Cyril Goizet;
Maria‐Ceù Moreira;
Sandra Klur;
Mohamed Yahyaoui;
Yves Agid;
Michel Koenig;
Giovanni Stevanin;
Alexis Brice;
Alexandra Dürr

Publication type:

Article

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 12, p. 2761, doi. 10.1093/brain/awg283

By:

Isabelle Le Ber;
Maria-Ceù Moreira;
Sophie Rivaud-Péchoux;
Céline Chamayou;
François Ochsner;
Thierry Kuntzer;
Marc Tardieu;
Gérard Saïd;
Marie-Odile Habert;
Geneviève Demarquay;
Christian Tannier;
Jean-Marie Beis;
Alexis Brice;
Michel Koenig;
Alexandra Dürr

Publication type:

Article

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Published in:

2017

By:

Renaud, Mathilde;
Tranchant, Christine;
Martin, Juan Vicente Torres;
Mochel, Fanny;
Synofzik, Matthis;
van de Warrenburg, Bart;
Pandolfo, Massimo;
Koenig, Michel;
Kolb, Stefan A.;
Anheim, Mathieu;
Alonso, Isabel;
Azzedine, Hamid;
Barbot, Clara;
Bereau, Matthieu;
Berkovic, Sam;
Bernard, Geneviéve;
Bindoff, Laurence A.;
Bompaire, Flavie;
Bonneau, Dominique;
Bonneau, Patrizia

Publication type:

journal article

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

Published in:

2015

By:

Pilliod, Julie;
Moutton, Sébastien;
Lavie, Julie;
Maurat, Elise;
Hubert, Christophe;
Bellance, Nadège;
Anheim, Mathieu;
Forlani, Sylvie;
Mochel, Fanny;
N'Guyen, Karine;
Thauvin‐Robinet, Christel;
Verny, Christophe;
Milea, Dan;
Lesca, Gaëtan;
Koenig, Michel;
Rodriguez, Diana;
Houcinat, Nada;
Van‐Gils, Julien;
Durand, Christelle M.;
Guichet, Agnès

Publication type:

journal article

Determination of the color temperature in laser-produced shocks.

Published in:

Laser & Particle Beams, 1997, v. 15, n. 4, p. 485, doi. 10.1017/S0263034600011071

By:

Bossi, Simone;
Hall, Tom A.;
Mahdieh, Mohammed;
Batani, Dimitri;
Koenig, Michel;
Krishnan, Jothy;
Benuzzi, Alessandra;
Boudenne, Jean Michel;
Lower, Thorsten

Publication type:

Article

Optical smoothing for shock-wave generation: Application to the measurement of equations of state.

Published in:

Laser & Particle Beams, 1996, v. 14, n. 2, p. 211, doi. 10.1017/S0263034600009940

By:

Batani, Dimitri;
Bossi, Simone;
Benuzzi, Alessandra;
Koenig, Michel;
Faral, Bernard;
Boudenne, Jean Michel;
Grandjouan, Nicolas;
Atzeni, Stefano;
Temporal, Mauro

Publication type:

Article

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Published in:

Scientific Reports, 2017, p. 45414, doi. 10.1038/srep45414

By:

Bougé, Anne-Laure;
Murauer, Eva;
Beyne, Emmanuelle;
Miro, Julie;
Varilh, Jessica;
Taulan, Magali;
Koenig, Michel;
Claustres, Mireille;
Tuffery-Giraud, Sylvie

Publication type:

Article

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Published in:

Scientific Reports, 2017, p. 39094, doi. 10.1038/srep39094

By:

Bougé, Anne-Laure;
Murauer, Eva;
Beyne, Emmanuelle;
Miro, Julie;
Varilh, Jessica;
Taulan, Magali;
Koenig, Michel;
Claustres, Mireille;
Tuffery-Giraud, Sylvie

Publication type:

Article

Assessment of the latest NGS enrichment capture methods in clinical context.

Published in:

Scientific Reports, 2016, p. 20948, doi. 10.1038/srep20948

By:

García-García, Gema;
Baux, David;
Faugère, Valérie;
Moclyn, Mélody;
Koenig, Michel;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1485, doi. 10.1093/hmg/7.9.1485

By:

Koutnikova, Hana;
Campuzano, Victoria;
Koenig, Michel

Publication type:

Article

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1771, doi. 10.1093/hmg/6.11.1771

By:

Campuzano, Victoria;
Montermini, Laura;
Lutz, Yves;
Cova, Lidia;
Hindelang, Colette;
Jiralerspong, Sarn;
Trottier, Yvon;
Kish, Stephen J.;
Faucheux, Baptiste;
Trouillas, Paul;
Authier, François J.;
Dürr, Alexandra;
Mandel, Jean-Louis;
Vescovi, Angelo;
Pandolfo, Massimo;
Koenig, Michel

Publication type:

Article

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1963

By:

Nadal, Nathalie;
Rolland, Marie-Odile;
Tranchant, Christine;
Reutenauer, Laurence;
Gyapay, Gabor;
Warter, Jean-Marie;
Mandel, Jean-Louis;
Kœnig, Michel

Publication type:

Article

Distinguishing the four genetic causes of jouberts syndrome–related disorders.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 513

By:

Enza Maria Valente;
Sarah E. Marsh;
Marco Castori;
Tracy Dixon‐Salazar;
Enrico Bertini;
Lihadh Al‐Gazali;
Jean Messer;
Clara Barbot;
C. Geoffrey Woods;
Eugen Boltshauser;
Asma A. Al‐Tawari;
Carmelo D. Salpietro;
Hulya Kayserili;
László Sztriha;
Moez Gribaa;
Michel Koenig;
Bruno Dallapiccola;
Joseph G. Gleeson

Publication type:

Article

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Published in:

1999

By:

Cossée, Mireille;
Dürr, Alexandra;
Schmitt, Michèle;
Dahl, Niklas;
Trouillas, Paul;
Allinson, Patricia;
Kostrzewa, Markus;
Nivelon-Chevallier, Annie;
Gustavson, Karl-Henrik;
Kohlschütter, Alfried;
Müller, Ulrich;
Mandel, Jean-Louis;
Brice, Alexis;
Koenig, Michel;
Cavalcanti, Francesca;
Tammaro, Angela;
De Michele, Giuseppe;
Filla, Alessandro;
Cocozza, Sergio;
Labuda, Malgorzata

Publication type:

journal article

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

Published in:

1998

By:

Watanabe, Mitsunori;
Sugai, Yoshiro;
Concannon, Patrick;
Koenig, Michel;
Schmitt, MichèLe;
Sato, Madoka;
Shizuka, Masami;
Mizushima, Kazuyuki;
Ikeda, Yoshio;
Tomidokoro, Yasushi;
Okamoto, Koichi;
Shoji, Mikio;
Watanabe, M;
Sugai, Y;
Concannon, P;
Koenig, M;
Schmitt, M;
Sato, M;
Shizuka, M;
Mizushima, K

Publication type:

journal article

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 8, p. 1399, doi. 10.1093/hmg/ddq015

By:

Braida, Claudia;
Stefanatos, Rhoda K.A.;
Adam, Berit;
Mahajan, Navdeep;
Smeets, Hubert J.M.;
Niel, Florence;
Goizet, Cyril;
Arveiler, Benoit;
Koenig, Michel;
Lagier-Tourenne, Clotilde;
Mandel, Jean-Louis;
Faber, Catharina G.;
de Die-Smulders, Christine E.M.;
Spaans, Frank;
Monckton, Darren G.

Publication type:

Article

Friedreich ataxia: the oxidative stress paradox.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 4, p. 463, doi. 10.1093/hmg/ddi042

By:

Seznec, Hervé;
Simon, Delphine;
Bouton, Cécile;
Reutenauer, Laurence;
Hertzog, Ariane;
Golik, Pawel;
Procaccio, Vincent;
Patel, Manisha;
Drapier, Jean-Claude;
Koenig, Michel;
Puccio, Hélène

Publication type:

Article

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 2, p. 307, doi. 10.1093/hmg/ddi027

By:

Fernet, Marie;
Gribaa, Moez;
Salih, Mustafa A.M.;
Seidahmed, Mohamed Zein;
Hall, Janet;
Koenig, Michel

Publication type:

Article

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 10, p. 1017, doi. 10.1093/hmg/ddh114

By:

Seznec, Hervé;
Simon, Delphine;
Monassier, Laurent;
Criqui-Filipe, Paola;
Gansmuller, Anne;
Rustin, Pierre;
Koenig, Michel;
Puccio, Hélène

Publication type:

Article

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 8, p. 813, doi. 10.1093/hmg/ddg092

By:

Bomont, Pascale;
Koenig, Michel

Publication type:

Article

Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2061, doi. 10.1093/hmg/10.19.2061

By:

Chantrel-Groussard, Karine;
Geromel, Vanna;
Puccio, Hélène;
Koenig, Michel;
Munnich, Arnold;
Rötig, Agnès;
Rustin, Pierre

Publication type:

Article