Vincent Laugel - Dissemin

Papers authored by Vincent Laugel

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2017 Alexey Epanchintsev, Federico Costanzo, Marc-Alexander Rauschendorf, Manuela Caputo, Tao Ye, Lise-Marie Donnio, Luca Proietti-De-Santis, Frederic Coin, Vincent Laugel

, Jean-Marc Egly

Cockayne’s Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation

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Emmanuelle Lagrue, Céline Dogan, Frédérique Audic, Nathalie Bach, Marie De Antonio, Christine Barnerias, Rémi Bellance, Claude Cances, Brigitte Chabrol, Jean-Marie Cuisset, Isabelle Desguerre, Cécile Laroche-Raynaud, Julien Durigneux, Vincent Laugel

, Caroline Espil and 23 other authors

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

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Ekaterina L. Ivanova, Frédéric Tran Mau-Them

, Saima Riazuddin, Kimia Kahrizi, Vincent Laugel

, Elise Schaefer, Anne de Saint Martin, Karen Runge, Zafar Iqbal, Marie-Aude Spitz, Mary Laura, Nathalie Drouot, Bénédicte Gérard, Jean-François Deleuze, Arjan P. M. de Brouwer and 10 other authors

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

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Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Jean Muller, André Pierre Legrand, Alexandra Durr, Vincent Laugel

, Michel Koenig, Christine Tranchant, Mathieu Anheim

SCA13 causes dominantly inherited non-progressive myoclonus ataxia

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

N. Blin-Rochemaure, N. Allani-Essid, R. Carlier, Laugel

, S. Quijano-Roy

[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]

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2016 Anne-Sophie Weingertner, Marguerite Miguet, Julien Thevenon, Vincent Laugel

, Mathilde Lefebvre, Aurélie Bourchany, Pierre Vabres, Jean-Baptiste Rivière, Yannis Duffourd, Elise Schaefer, Valérie Kremer, Maria Cristina Antal

, Fanny Morice-Picard, Rosalie Abida, Marie Gonzales and 9 other authors

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

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Andoni Echaniz-Laguna, Christine Tranchant, Vincent Laugel

, Cyril Schweitzer, Maud Michaud, François Boyer, Pascal Sabouraud

LE CERNEST : Centre de référence neuromusculaire Grand Est

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Meriam Koob

, François Rousseau, Vincent Laugel

, Nicolas Meyer, Jean-Paul Armspach, Nadine Girard, Jean-Louis Dietemann

Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study

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Martial Mallaret, Mathilde Renaud, Claire Redin, Nathalie Drouot, Jean Muller, Francois Severac, Jean Louis Mandel, Wahiba Hamza, Traki Benhassine, Lamia Ali-Pacha, Meriem Tazir, Alexandra Durr, Marie-Lorraine Monin, Cyril Mignot, Perrine Charles and 10 other authors

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

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Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet and 14 other authors

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

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Arushi Gahlot Saini, Naveen Sankhyan, Sameer Vyas, Vincent Laugel

, Nadège Calmels, Pratibha Singhi

Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification

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Salima El Chehadeh, Wilhelmina S. Kerstjens-Frederikse, Julien Thevenon

, Paul Kuentz

, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Yannis Duffourd, Vincent Laugel

, Caroline Bonnet, Jean-Baptiste Rivière, Matthieu P. Robert, Rodica Isaiko, Morgane Straub and 15 other authors

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

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2015 I. Desguerre, V. Laugel

Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne

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B. Cowling, I. Prokic, T. Chevremont, C. Kretz, A. Ferry, C. Coirault, V. Laugel

, N. Romero, J. Laporte

Reducing dynamin 2 rescues a severe congenital myopathy in mice

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Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, Rabah Ben Yaou, Mélanie Annoussamy, Amélie Moraux, Jean-Yves Hogrel, Andreea M. Seferian, Karima Zehrouni, Anne-Gaëlle Le Moing, Anne-Gaëlle Le Moing, Teresa Gidaro, Catherine Vanhulle, Vincent Laugel

and 8 other authors

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

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Cyril Gitiaux, Nathalie Blin-Rochemaure, Marie Hully, Andoni Echaniz-Laguna, Nadège Calmels, Nadia Bahi-Buisson, Isabelle Desguerre, Ivana Dabaj, Samer Wehbi, Susana Quijano-Roy, Vincent Laugel

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

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Johanna Lowenstein Schmidt, Yanick Joseph Y. J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M. A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Stefano D. Arrigo and 142 other authors

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

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I. Desguerre, Laugel

[Diagnosis and natural history of Duchenne muscular dystrophy]

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2014 Maha S. Zaki, Mohamed S. Abdel-Hamid, Ghada Abdel-Salam, Odile Boespflug-Tanguy, Nuno J. Cordeiro, Yanick J. Crow, Joseph G. Gleeson, Nirmala Rani Gowrinathan, Vincent Laugel

, Florence Renaldo, Diana Rodriguez, John H. Livingston, Gillian I. Rice

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia.

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Belinda S. Cowling, Thierry Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry, Catherine Coirault, Olga Koutsopoulos, Vincent Laugel

, Norma B. Romero, Jocelyn Laporte

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

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Papers authored by Vincent Laugel