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51

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Molto, M. D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S. I.,

Journal:

Year:

1996

Language:

english

File:

PDF, 817 KB

english, 1996

52

L’amyotrophie bulbaire et spinale liée au chromosome X : une étude clinique, neurophysiologique et moléculaire de 12 patients issus de 4 familles

Echaniz-Laguna, A., Rousso, E., Anheim, M., Fleury, M., Cossée, M., Tranchant, C.

Journal:

Revue Neurologique

Year:

2005

File:

PDF, 568 KB

2005

53

Le point sur le syndrome de Bardet-Biedl

Dollfus, H., Verloes, A., Bonneau, D., Cossée, M., Perrin-Schmitt, F., Brandt, C., Flament, J., Mandel, J.-L.

Journal:

Journal Français d'Ophtalmologie

Year:

2005

Language:

french

File:

PDF, 142 KB

french, 2005

54

Bases moléculaires de l'ataxie de Friedreich et de l'ataxie par déficit en vitamine E

Koenig, Michel, Campuzano, Victoria, Cossée, Mireille, Koutnikova, Hana, Ouahchi, Karim, Cavalier, Laurent, Mandel, Jean-Louis

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1996

File:

PDF, 724 KB

1996

55

Anoctamin 5 myopathy: More patients, more phenotypes

Behin, A., Leturcq, F., Cossée, M., Wahbi, K., Deburgrave, N., Bécane, H.-M., Carlier, R.-Y., Laforêt, P., Stojkovic, T., Carlier, P., Eymard, B.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

56

Expression hémicorporelle d’une myopathie myotubulaire liée à l’X (XLMTM) chez deux des trois femmes conductrices d’une même famille sans cas masculin

Drouet, A., Ollagnon-Roman, E., Streichenberger, N., Biancalana, V., Cossée, M., Guilloton, L., Petiot, P.

Journal:

Revue Neurologique

Year:

2008

File:

PDF, 670 KB

2008

57

Dilated cardiomyopathy in patients with mutations in anoctamin 5

Wahbi, K., Béhin, A., Bécane, H.M., Leturcq, F., Cossée, M., Laforêt, P., Stojkovic, T., Carlier, P., Toussaint, M., Gaxotte, V., Cluzel, P., Eymard, B., Duboc, D.

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 164 KB

english, 2013

58

P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

Stojkovic, T., Nelson, I., Nectoux, J., Cossee, M., Allamand, V., Gartioux, C., Yaou, R. Ben, Ferreiro, A., Richard, P., Carlier, P.Y., Carlier, P., Dupont, S., Lehéricy, S., Eymard, B., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

59

Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations

Mireille Cossee, Michele Schmitt, Victoria Campuzano, Laurence Reutenauer, Celine Moutou, Jean-Louis Mandel and Michel Koenig

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 1.49 MB

english, 1997

60

Electron spin resonance study of rearrangements in the co-ordination of Cr5+ and V4+ complexes due to chemisorption

van Reijen, L. L., Cossee, P.

Journal:

Discussions of the Faraday Society

Year:

1966

Language:

english

File:

PDF, 1.01 MB

english, 1966

61

General discussion

Cimino, A., Kemball, C., Burwell, R. L., Bond, G. C., Blyholder, G., Schwab, G.-M., van Reijen, L. L., Ertl, G., Rozendaal, Ir. A., Cossee, P., Sheppard, N., Eley, D. D., Dowden, D. A., Rooney, J. J.,

Journal:

Discussions of the Faraday Society

Year:

1966

Language:

english

File:

PDF, 1.49 MB

english, 1966

62

Coordination and Spin-Lattice Relaxation of Cr5+

van Reijen, L. L., Cossee, P., van Haren, H. J.

Journal:

The Journal of Chemical Physics

Year:

1963

Language:

english

File:

PDF, 383 KB

english, 1963

63

Magnetic properties of Co 2+ ions in octahedral interstices of an oxide lattice

Journal:

Molecular Physics

Year:

1960

Language:

english

File:

PDF, 293 KB

english, 1960

64

Foreign language education in Austria

Landsiedler, I, Kerschbaumer, M, Kettemann, B, Cossée, M

Journal:

Language Learning Journal

Year:

1998

Language:

english

File:

PDF, 1.23 MB

english, 1998

65

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, Alexandra, Cossee, Mireille, Agid, Yves, Campuzano, Victoria, Mignard, Claude, Penet, Christiane, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel

Journal:

Boston Medical and Surgical Journal

Year:

1996

Language:

english

File:

PDF, 116 KB

english, 1996

66

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Daoud, F., Angeard, N., Demerre, B., Martie, I., Benyaou, R., Leturcq, F., Cossee, M., Deburgrave, N., Saillour, Y., Tuffery, S., Urtizberea, A., Toutain, A., Echenne, B., Frischman, M., Mayer, M., De

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

67

Stereoregularity in heterogeneous Ziegler-Natta catalysis

Journal:

Transactions of the Faraday Society

Year:

1962

Language:

english

File:

PDF, 477 KB

english, 1962

68

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

Echaniz-Laguna, A., Rousso, E., Anheim, M., Cossee, M., Tranchant, C.

Journal:

Year:

2005

Language:

english

File:

PDF, 335 KB

english, 2005

69

Het Remonstrants Seminarium Te Leiden 1873-1973

Journal:

Nederlands Archief voor Kerkgeschiedenis

Year:

1974

Language:

dutch

File:

PDF, 499 KB

dutch, 1974

70

Kennedy's Disease Initially Manifesting as an Endocrine Disorder

Battaglia, F., Le Galudec, V., Cossee, M., Tranchant, C., Warter, J. M., Echaniz-Laguna, A.

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

71

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

Alame, Melissa, Lacourt, Delphine, Zenagui, Reda, Mechin, Déborah, Danton, Fabienne, Koenig, Michel, Claustres, Mireille, Cossée, Mireille

Journal:

The Journal of Molecular Diagnostics

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

72

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations

Cossee, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J.-L., Koenig, M.

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 274 KB

english, 1997

73

Titin gene mutations presenting as centronuclear myophathies

Juntas Morales, R., Walther Louvier, U., Cances, C., Rigau, V., Rivier, F., Cossee, M., Zenagui, R., Peyroulan, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

74

New Zealand Black-browed Albatross Diomedea melanophrys impavidaand Grey-headed Albatross D. chrysostoma Banded at Campbell Island: Recoveries from the South Pacific Region

Waugh, S.M., Sagar, P.M., Cossee, R.O.

Journal:

Year:

1999

Language:

english

File:

PDF, 258 KB

english, 1999

75

Adult onset distal myopathy secondary to nebulin gene mutations

Juntas Morales, R., Lacourt, D., Theze, C., Pegeot, H., Perrin, A., Yauy, K., Maues de Paula, A., Figarella, D., Leboucq, N., Cossêe, M.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 238 KB

english, 2017

76

Vers une homogénéisation nationale des analyses par NGS dans la démarche diagnostique pour les myopathies

Krahn, Martin, Cerino, Mathieu, Campana-Salort, Emmanuelle, Cossée, Mireille

Journal:

médecine/sciences

Year:

2017

Language:

french

File:

PDF, 2.25 MB

french, 2017

77

Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Perrin, Aurélien, Latour, Philippe, Procaccio, Vincent, Jardel, Claude, Cérino, Mathieu, Bonne, Gisèle, Salort-Campana, Emmanuelle, Urtizberea, J. Andoni, Pouget, Jean, Krahn, Martin, Cossée, Mireille

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 430 KB

french, 2018