Walther-Louvier, U.: search on Z-Library

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1

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

Zenagui, Reda, Lacourt, Delphine, Pegeot, Henri, Yauy, Kevin, Morales, Raul J., Theze, Corine, Rivier, François, Cances, Claude, Sole, Guilhem, Renard, Dimitri, Walther-Louvier, Ulrike, Ferrer-Monaste

Journal:

The Journal of Molecular Diagnostics

Year:

2018

Language:

english

File:

PDF, 3.69 MB

english, 2018

2

Partial acute transverse myelitis is a predictor of multiple sclerosis in children

Meyer, P., Leboucq, N., Molinari, N., Roubertie, A., Carneiro, M., Walther-Louvier, U., Cuntz-Shadfar, D., Leydet, J., Cheminal, R., Cambonie, G., Echenne, B., Rondouin, G., Deiva, K., Mikaeloff, Y.,

Journal:

Multiple Sclerosis Journal

Year:

2014

Language:

english

File:

PDF, 997 KB

english, 2014

3

Prise en charge des bronchiolites aiguës

L. Le Clainche, U. Walther-Louvier, C. Berckmans, D. Moreau, C. Blanchet, B. Rétali, J.M. Babinet, D. Asensi

Journal:

Revue Française d'Allergologie et d'Immunologie Clinique

Year:

1999

File:

PDF, 529 KB

1999

4

Maladies neuromusculaires congénitales à expression respiratoire néonatale à l’exclusion de la dystrophie myotonique de type 1 et de l’amyotrophie spinale infantile. Stratégie d’exploration d’après une série de 19 enfants

Raignoux, J., Walther-Louvier, U., Espil, C., Berthomieu, L., Uro-Coste, E., Rivier, F., Cances, C.

Journal:

Archives de Pédiatrie

Year:

2016

Language:

english

File:

PDF, 701 KB

english, 2016

5

Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease

Walther-Louvier, U., Meyer, P., Mercier, M., Manel, V., Cances, C., Espil-Taris, C., Richelme, C., Jeanpierre, M., Rivier, F.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

6

Dystrophie facio-scapulo-humérale : une maladie multisystémique chez l’enfant

Rivier, François, Walther-Louvier, Ulrike, Meyer, Pierre, Cances, Claude, Espil-Taris, Caroline, Manel, Véronique, Jeanpierre, Marc

Journal:

Revue Neurologique

Year:

2016

Language:

french

File:

PDF, 50 KB

french, 2016

7

Myopathies constitutionnelles : place des examens complémentaires

F. Rivier, Ul. Walther-Louvier, S. Chabrier, C. Cances, C. Espil, M. Carneiro, B. Echenne, P. Meyer

Journal:

Archives de Pédiatrie

Year:

2012

Language:

french

File:

PDF, 94 KB

french, 2012

8

Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Zenagui, R., Lacourt, D., Juntas-Morales, R., Sole, G., Cances, C., River, F., Renard, D., Walther-Louvier, U., Ferrer-Monasterio, X., Espil, C., Arné-Bes, M., Cintas, P., Uro-Coste, E., Martin Negrie

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

9

P272 - Forme trompeuse de la maladie de Pompe : étude d’une fratrie

U. Walther-Louvier, H. Schlegel, M. Mercier, M. Carneiro, B. Echenne, H. Bataille, M. Piraud, M. Rolland, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 56 KB

french, 2010

10

Next generation sequencing of a large panel of genes is efficient for diagnosis of children with myopathies and muscular dystrophies, especially for early and / or atypical cases

Yauy, Kevin, Walther-Louvier, Ulrike, Juntas-Morales, Raul, Cances, Claude, Espil, Caroline, Sole, Guilhem, Arne-Bes, Marie-Christine, Cintas, Pascal, Renard, Dimitri, Lacourt, Delphine, Leboucq, Nico

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

11

Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Lacourt, D., Yauy, K., Walther-Louvier, U., Juntas-Morales, R., Cances, C., Espil, C., Sole, G., Arné-Bes, M., Cintas, P., Uro-coste, E., Negrier, M. Martin, Rigau, V., Bieth, E., Goizet, C., Koenig,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 239 KB

english, 2017

12

Pour une diversité des points de vue dans l'abord des troubles précoces du langage et de la communication

Boissel, Anne, Walther-Louvier, Ulrike

Journal:

Year:

2011

Language:

french

File:

PDF, 676 KB

french, 2011

13

SMA - CLINICAL

De Lucia, S., Phelep, A., Seferian, A., Foyer, P., Walther-Louvier, U., Durigneux, J., Cances, C., Ropars, J., Vuillerot, C., Servais, L., Boespflug, O.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 56 KB

2020

14

P302 - Homocystinurie par déficit en CbS : cause «traitable» de déficience intellectuelle

M. Carneiro, M. Mercier, U. Walther-Louvier, C. Vallat, C. Eliaou, M.O. Rolland, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 68 KB

french, 2010

15

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Perrin, AurÃ©lien, Juntas Morales, Raul, Rivier, FranÃ§ois, Cances, Claude, Walther-Louvier, Ulrike, Van Goethem, Charles, ThÃ¨ze, Corinne, Lacourt, Delphine, PÃ©geot, Henri, Zenagui, Reda, Uro-Coste,

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 2.64 MB

2020

16

P299 – 1889 Congenital myasthenic syndromes: classification and therapy

Echenne, B, Sternberg, D, Richard, P, Nicole, S, Meyer, P, Nouguès, MC, Walther-Louvier, U, Farmer, M, Cieuta-Walti, C, Hantaï, D, Eymard, B, Rivier, F

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

17

Pediatric cerebral venous thrombosis: Description and prognosis according to the physiopathological mechanism in a population of 40 cases

Durand, S., Meyer, P., Leboucq, N., Langlois, C., Carneiro, M., Roubertie, A., Walther-Louvier, U., Cuntz, D., Leydet, J., Plan, O., Combes, C., Cambonie, G., Rivier, F.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

18

P309 - Le syndrome de Barth : à propos d’un cas

U. Walther-Louvier, H. Schlegel, M. Mercier, M. Carneiro, B. Echenne, M. Voisin, S. Chabrier, S. Boyer, R. Touraine, F. Rivier

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 56 KB

french, 2010

19

Une maladie multisystémique chez l’enfant

Walther-Louvier, Ulrike, Rivier, François

Journal:

Revue Neurologique

Year:

2016

Language:

french

File:

PDF, 59 KB

french, 2016

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