Vincent Laugel

Affiliations
  • Laboratoire de Génétique Médicale, INSERM, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Faculté de médecine de Strasbourg, Strasbourg, France.
  • Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Publications (43)

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

EMBO molecular medicine
Avec: Ariane Kröll-Hermi , Frédéric Ebstein , Corinne Stoetzel , Véronique Geoffroy , Elise Schaefer , Sophie Scheidecker , Séverine Bär , Masanari Takamiya , Koichi Kawakami , Barbara A Zieba , Fouzia Studer , Valerie Pelletier , Carine Eyermann , Claude Speeg-Schatz , Vincent Laugel , Dan Lipsker , Florian Sandron , Steven McGinn , Anne Boland , Jean-François Deleuze , Lauriane Kuhn , Johana Chicher , Philippe Hammann , Sylvie Friant , Christelle Etard , Elke Krüger , Jean Muller , Uwe Strähle , Hélène Dollfus

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Annals of neurology
Avec: Yvan de Feraudy , Rabah Ben Yaou , Karim Wahbi , Caroline Stalens , Amalia Stantzou , Vincent Laugel , Isabelle Desguerre , Auteur inconnu , Laurent Servais , France Leturcq , Helge Amthor

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Bertrand Isidor , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Nadia Bahi-Buisson , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , Christine Coubes , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.

Frontiers in genetics
Avec: Rayanne Damaj-Fourcade , Nicolas Meyer , Cathy Obringer , Nicolas Le May , Nadège Calmels , Vincent Laugel

Molecular and clinical descriptions of patients with GABA

Epilepsia
Avec: Pierre-Yves Maillard , Sarah Baer , Élise Schaefer , Béatrice Desnous , Nathalie Villeneuve , Anne Lépine , Alexandre Fabre , Caroline Lacoste , Salima El Chehadeh , Amélie Piton , Louise Frances Porter , Caroline Perriard , Marie-Thérèse Abi Wardé , Marie-Aude Spitz , Vincent Laugel , Gaëtan Lesca , Audrey Putoux , Dorothée Ville , Cyril Mignot , Delphine Héron , Rima Nabbout , Giulia Barcia , Marlène Rio , Agathe Roubertie , Pierre Meyer , Véronique Paquis-Flucklinger , Olivier Patat , Jérémie Lefranc , Marion Gerard , Auteur inconnu , Julietta de Bellescize , Laurent Villard , Anne De Saint Martin , Mathieu Milh

Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: Frédérique Audic , Sonia M Dubois , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Marie-Christine Nougues , Jean-Baptiste Davion , Christian Richelme , Carole Vuillerot , Laure Legoff , Pascal Sabouraud , Claude Cances , Vincent Laugel , Juliette Ropars , Caroline Espil-Taris , Valérie Trommsdorff , Anne Pervillé , Marta Gomez Garcia-de-la-Banda , Hervé Testard , Mondher Chouchane , Ulrike Walther-Louvier , Cyril Schweizer , Cécile Halbert , Myriam Badri , Susana Quijano-Roy , Brigitte Chabrol , Isabelle Desguerre

Lyme neuroborreliosis in children: Report of nine cases and a review of the literature.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: H Guet-Revillet , C Levy , C Vallet , V Maghraoui-Slim , M-A Dommergues , V Hentgen , C Paget , V Laugel , R Cohen , A Ferroni

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Circulation
Avec: Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , Neal K Lakdawala , Caroline Stalens , Frédéric Sacher , Dominique Babuty , Jean-Noel Trochu , Ghassan Moubarak , Kostantinos Savvatis , Raphaël Porcher , Pascal Laforêt , Abdallah Fayssoil , Eloi Marijon , Tanya Stojkovic , Anthony Béhin , Sarah Leonard-Louis , Guilhem Sole , Fabien Labombarda , Pascale Richard , Corinne Metay , Susana Quijano-Roy , Ivana Dabaj , Didier Klug , Marie-Christine Vantyghem , Philippe Chevalier , Pierre Ambrosi , Emmanuelle Salort , Nicolas Sadoul , Xavier Waintraub , Khadija Chikhaoui , Philippe Mabo , Nicolas Combes , Philippe Maury , Jean-Marc Sellal , Usha B Tedrow , Jonathan M Kalman , Jitendra Vohra , Alexander F A Androulakis , Katja Zeppenfeld , Tina Thompson , Christine Barnerias , Henri-Marc Bécane , Eric Bieth , Franck Boccara , Damien Bonnet , Françoise Bouhour , Stéphane Boulé , Anne-Claire Brehin , Françoise Chapon , Pascal Cintas , Jean-Marie Cuisset , Jean-Marc Davy , Annachiara De Sandre-Giovannoli , Florence Demurger , Isabelle Desguerre , Klaus Dieterich , Julien Durigneux , Andoni Echaniz-Laguna , Romain Eschalier , Ana Ferreiro , Xavier Ferrer , Christine Francannet , Mélanie Fradin , Bénédicte Gaborit , Arnaud Gay , Albert Hagège , Arnaud Isapof , Isabelle Jeru , Raul Juntas Morales , Emmanuelle Lagrue , Nicolas Lamblin , Olivier Lascols , Vincent Laugel , Arnaud Lazarus , France Leturcq , Nicolas Levy , Armelle Magot , Véronique Manel , Raphaël Martins , Michèle Mayer , Sandra Mercier , Christophe Meune , Maud Michaud , Marie-Christine Minot-Myhié , Antoine Muchir , Aleksandra Nadaj-Pakleza , Yann Péréon , Philippe Petiot , Florence Petit , Julien Praline , Anne Rollin , Pascal Sabouraud , Catherine Sarret , Stéphane Schaeffer , Frederic Taithe , Céline Tard , Vincent Tiffreau , Annick Toutain , Camille Vatier , Ulrike Walther-Louvier , Bruno Eymard , Philippe Charron , Corinne Vigouroux , Gisèle Bonne , Saurabh Kumar , Perry Elliott , Denis Duboc

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Journal of human genetics
Avec: J Mortreux , J Bacquet , A Boyer , E Alazard , R Bellance , A G Giguet-Valard , M Cerino , M Krahn , F Audic , B Chabrol , V Laugel , J P Desvignes , C Béroud , K Nguyen , A Verschueren , N Lévy , S Attarian , V Delague , C Missirian , N Bonello-Palot

COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2months of the epidemic.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: O Lavaine , J Spizzo , C Arbitre , J Muller , P Kuhn , V Laugel , D Tchomakov

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

American journal of medical genetics. Part A
Avec: Laura Mary , Elsa Nourisson , Claire Feger , Vincent Laugel , Denys Chaigne , Boris Keren , Alexandra Afenjar , Thierry Billette , Detlef Trost , Cécile Cieuta-Walti , Bénédicte Gerard , Amélie Piton , Elise Schaefer

International retrospective natural history study of

Brain communications
Avec: Rabah Ben Yaou , Pomi Yun , Ivana Dabaj , Gina Norato , Sandra Donkervoort , Hui Xiong , Andrés Nascimento , Lorenzo Maggi , Anna Sarkozy , Soledad Monges , Marta Bertoli , Hirofumi Komaki , Michèle Mayer , Eugenio Mercuri , Edmar Zanoteli , Claudia Castiglioni , Chiara Marini-Bettolo , Adele D'Amico , Nicolas Deconinck , Isabelle Desguerre , Ricardo Erazo-Torricelli , Juliana Gurgel-Giannetti , Akihiko Ishiyama , Karin S Kleinsteuber , Emmanuelle Lagrue , Vincent Laugel , Sandra Mercier , Sonia Messina , Luisa Politano , Monique M Ryan , Pascal Sabouraud , Ulrike Schara , Gabriele Siciliano , Liliana Vercelli , Thomas Voit , Grace Yoon , Rachel Alvarez , Francesco Muntoni , Tyler M Pierson , David Gómez-Andrés , A Reghan Foley , Susana Quijano-Roy , Carsten G Bönnemann , Gisèle Bonne

Does gene therapies clinical research in rare diseases reflects the competitivity of the country: Example of France.

Therapie
Avec: Karyna Lutsyk , Tristan Gicquel , Lucas Cortial , Sylvain Forget , Serge Braun , Pierre-Olivier Boyer , Vincent Laugel , Olivier Blin

Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Avec: Stéphanie Fontaine Carbonnel , Ivana Dabaj , Camille de Montferrand , Pascal Rippert , Vincent Laugel , Silvana De Lucia , Claudia Ravelli , Andreea Seferian , Juliette Ropars , Claude Cances

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Clinical genetics
Avec: Sarah Baer , Cathy Obringer , Sophie Julia , Jameleddine Chelly , Yline Capri , Domitille Gras , Geneviève Baujat , Têmis Maria Felix , Berenice Doray , Jaime Sanchez Del Pozo , Lina M Ramos , Lydie Burglen , Vincent Laugel , Nadège Calmels

Growth charts in Cockayne syndrome type 1 and type 2.

European journal of medical genetics
Avec: Sarah Baer , Nicolas Tuzin , Peter B Kang , Shehla Mohammed , Masaya Kubota , Yvette van Ierland , Tiffany Busa , Massimiliano Rossi , Godelieve Morel , Caroline Michot , Geneviève Baujat , Myriam Durand , Cathy Obringer , Nicolas Le May , Nadège Calmels , Vincent Laugel

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

Orphanet journal of rare diseases
Avec: Asma Chikhaoui , Ichraf Kraoua , Nadège Calmels , Sami Bouchoucha , Cathy Obringer , Khouloud Zayoud , Benjamin Montagne , Ridha M'rad , Sonia Abdelhak , Vincent Laugel , Miria Ricchetti , Ilhem Turki , Houda Yacoub-Youssef

Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL

BMC pediatrics
Avec: Elisabeth Wallach , Virginie Ehlinger , Maelle Biotteau , Ulrike Walther-Louvier , Yann Péréon , Carole Vuillerot , Stephanie Fontaine , Pascal Sabouraud , Caroline Espil-Taris , Jean-Marie Cuisset , Vincent Laugel , Eloïse Baudou , Catherine Arnaud , Claude Cances

Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

The Lancet. Neurology
Avec: Bettina C Henzi , Simone Schmidt , Sara Nagy , Daniela Rubino-Nacht , Sabine Schaedelin , Niveditha Putananickal , Georgia Stimpson , Auteur inconnu , Helge Amthor , Anne-Marie Childs , Nicolas Deconinck , Imelda de Groot , Iain Horrocks , Saskia Houwen-van Opstal , Vincent Laugel , Mercedes Lopez Lobato , Marcos Madruga Garrido , Andrés Nascimento Osorio , Ulrike Schara-Schmidt , Stefan Spinty , Arpad von Moers , Fiona Lawrence , Patricia Hafner , Olivier M Dorchies , Dirk Fischer

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.

Neurology. Clinical practice
Avec: Geetanjali Rajamani , Seth A Stafki , Audrey L Daugherty , William G Mantyh , Hannah R Littel , Christine C Bruels , Christina A Pacak , Paul D Robbins , Laura J Niedernhofer , Adesoji Abiona , Paola Giunti , Shehla Mohammed , Vincent Laugel , Peter B Kang

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Frontiers in pediatrics
Avec: Marie Hully , Christine Barnerias , Delphine Chabalier , Sophie Le Guen , Virginie Germa , Elodie Deladriere , Catherine Vanhulle , Jean-Marie Cuisset , Brigitte Chabrol , Claude Cances , Carole Vuillerot , Caroline Espil , Michele Mayer , Marie-Christine Nougues , Pascal Sabouraud , Jeremie Lefranc , Vincent Laugel , Francois Rivier , Ulrike Walther Louvier , Julien Durigneux , Sylvia Napuri , Catherine Sarret , Michel Renouil , Alice Masurel , Marcel-Louis Viallard , Isabelle Desguerre

Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

JAMA network open
Avec: Patricia Hafner , Ulrike Bonati , Andrea Klein , Daniela Rubino , Vanya Gocheva , Simone Schmidt , Jonas Schroeder , Günther Bernert , Vincent Laugel , Maja Steinlin , Andrea Capone , Monika Gloor , Oliver Bieri , Lars G Hemkens , Benjamin Speich , Thomas Zumbrunn , Nuri Gueven , Dirk Fischer

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Pascal Sabouraud , Audrey Riquet , Marie-Aude Spitz , Kumaran Deiva , Sona Nevsimalova , Cyril Mignot , Gaëtan Lesca , Nathalie Bednarek , Diane Doummar , Christine Pietrement , Vincent Laugel

Renal disease in Cockayne syndrome.

European journal of medical genetics
Avec: Amélie Stern-Delfils , Marie-Aude Spitz , Myriam Durand , Cathy Obringer , Nadège Calmels , Jérôme Olagne , Komala Pillay , Karen Fieggen , Vincent Laugel , Ariane Zaloszyc

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

Neurology
Avec: Emmanuelle Lagrue , Céline Dogan , Marie De Antonio , Frédérique Audic , Nathalie Bach , Christine Barnerias , Rémi Bellance , Claude Cances , Brigitte Chabrol , Jean-Marie Cuisset , Isabelle Desguerre , Julien Durigneux , Caroline Espil , Mélanie Fradin , Delphine Héron , Arnaud Isapof , Agnès Jacquin-Piques , Hubert Journel , Cécile Laroche-Raynaud , Vincent Laugel , Armelle Magot , Véronique Manel , Michèle Mayer , Yann Péréon , Julie Perrier-Boeswillald , Sylviane Peudenier , Susana Quijano-Roy , Sylvie Ragot-Mandry , Christian Richelme , François Rivier , Pascal Sabouraud , Catherine Sarret , Hervé Testard , Catherine Vanhulle , Ulrike Walther-Louvier , Romain Gherardi , Dalil Hamroun , Guillaume Bassez

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.

Mutation research. Genetic toxicology and environmental mutagenesis
Avec: L P Castro , M Sahbatou , F S G Kehdy , A A Farias , A A Yurchenko , T A de Souza , R C A Rosa , C T Mendes-Junior , V Borda , V Munford , É A Zanardo , S N Chehimi , L D Kulikowski , M M Aquino , T P Leal , E Tarazona-Santos , S C Chaibub , B Gener , N Calmels , V Laugel , A Sarasin , C F M Menck

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Orphanet journal of rare diseases
Avec: Frédérique Audic , Marta Gomez Garcia de la Banda , Delphine Bernoux , Paola Ramirez-Garcia , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Jean-Marie Cuisset , Claude Cances , Christian Richelme , Carole Vuillerot , Vincent Laugel , Juliette Ropars , Cécilia Altuzarra , Caroline Espil-Taris , Ulrike Walther-Louvier , Pascal Sabouraud , Mondher Chouchane , Catherine Vanhulle , Valérie Trommsdorff , Anne Pervillé , Hervé Testard , Emmanuelle Lagrue , Catherine Sarret , Anne-Laude Avice , Pierre Beze-Beyrie , Vanessa Pauly , Susana Quijano-Roy , Brigitte Chabrol , Isabelle Desguerre

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

American journal of medical genetics. Part A
Avec: Pauline Le Van Quyen , Nadège Calmels , Maryse Bonnière , Suzanne Chartier , Féréchté Razavi , Jamel Chelly , Salima El Chehadeh , Sarah Baer , Lucile Boutaud , Séverine Bacrot , Cathy Obringer , Romain Favre , Tania Attié-Bitach , Vincent Laugel , Maria C Antal

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.

Orphanet journal of rare diseases
Avec: Lucie Isoline Pisella , Sara Fernandes , Guilhem Solé , Tanya Stojkovic , Céline Tard , Jean-Baptiste Chanson , Françoise Bouhour , Emmanuelle Salort-Campana , Guillemette Beaudonnet , Louise Debergé , Fanny Duval , Aude-Marie Grapperon , Marion Masingue , Aleksandra Nadaj-Pakleza , Yann Péréon , Frédérique Audic , Anthony Behin , Diane Friedman , Armelle Magot , Jean-Baptiste Noury , Sarah Souvannanorath , Karim Wahbi , Jean-Christophe Antoine , Kévin Bigaut , Jean-Philippe Camdessanché , Pascal Cintas , Rabab Debs , Caroline Espil-Taris , Laurent Kremer , Thierry Kuntzer , Pascal Laforêt , Vincent Laugel , Martial Mallaret , Maud Michaud , Sylvain Nollet , Juliette Svahn , Savine Vicart , Rocio Nur Villar-Quiles , Isabelle Desguerre , David Adams , Sandrine Segovia-Kueny , Géraldine Merret , Elhadi Hammouda , Annamaria Molon , Shahram Attarian

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Acta neuropathologica communications
Avec: Clémence Labasse , Guy Brochier , Ana-Lia Taratuto , Bruno Cadot , John Rendu , Soledad Monges , Valérie Biancalana , Susana Quijano-Roy , Mai Thao Bui , Anaïs Chanut , Angéline Madelaine , Emmanuelle Lacène , Maud Beuvin , Helge Amthor , Laurent Servais , Yvan de Feraudy , Marcela Erro , Maria Saccoliti , Osorio Abath Neto , Julien Fauré , Béatrice Lannes , Vincent Laugel , Sandra Coppens , Fabiana Lubieniecki , Ana Buj Bello , Nigel Laing , Teresinha Evangelista , Jocelyn Laporte , Johann Böhm , Norma B Romero

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Uwe Kornak , Namrata Saha , Boris Keren , Alexander Neumann , Ana Lisa Taylor Tavares , Juliette Piard , Johannes Kopp , João Guilherme Rodrigues Alves , Miguel Rodríguez de Los Santos , Naji El Choubassi , Nadja Ehmke , Marten Jäger , Malte Spielmann , Jean Tori Pantel , Elodie Lejeune , Beatrix Fauler , Thorsten Mielke , Jochen Hecht , David Meierhofer , Tim M Strom , Vincent Laugel , Alexis Brice , Stefan Mundlos , Aida Bertoli-Avella , Peter Bauer , Florian Heyd , Odile Boute , Juliette Dupont , Christel Depienne , Lionel Van Maldergem , Björn Fischer-Zirnsak

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Pediatric neurology
Avec: Seth A Stafki , Johnnie Turner , Hannah R Littel , Christine C Bruels , Don Truong , Ursula Knirsch , Georg M Stettner , Urs Graf , Wolfgang Berger , Maria Kinali , Heinz Jungbluth , Christina A Pacak , Jayne Hughes , Amytice Mirchi , Alexa Derksen , Catherine Vincent-Delorme , Arjan F Theil , Geneviève Bernard , David Ellis , Hiva Fassihi , Alan R Lehmann , Vincent Laugel , Shehla Mohammed , Peter B Kang

Increased diagnostic yield in complex dystonia through exome sequencing.

Parkinsonism & related disorders
Avec: Thomas Wirth , Christine Tranchant , Nathalie Drouot , Boris Keren , Cyril Mignot , Laura Cif , Romain Lefaucheur , Laurence Lion-François , Aurélie Méneret , Domitille Gras , Emmanuel Roze , Cécile Laroche , Pierre Burbaud , Stéphanie Bannier , Ouhaid Lagha-Boukbiza , Marie-Aude Spitz , Vincent Laugel , Matthieu Bereau , Emmanuelle Ollivier , Patrick Nitschke , Diane Doummar , Gabrielle Rudolf , Mathieu Anheim , Jamel Chelly

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Scientific reports
Avec: Alexey Epanchintsev , Marc-Alexander Rauschendorf , Federico Costanzo , Nadege Calmels , Cathy Obringer , Alain Sarasin , Frederic Coin , Vincent Laugel , Jean-Marc Egly

Do French Consumers Have the Same Social Representations of Pulses as Food Industry Professionals?

Foods (Basel, Switzerland)
Avec: Juliana Melendrez-Ruiz , Gaëlle Arvisenet , Vincent Laugel , Stéphanie Chambaron , Sandrine Monnery-Patris

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

Identification and Characterization of a Novel Recurrent

Genes
Avec: Khouloud Zayoud , Ichraf Kraoua , Asma Chikhaoui , Nadège Calmels , Sami Bouchoucha , Cathy Obringer , Clément Crochemore , Dorra Najjar , Sinda Zarrouk , Najoua Miladi , Vincent Laugel , Miria Ricchetti , Ilhem Turki , Houda Yacoub-Youssef

Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.

Annals of clinical and translational neurology
Avec: Mélanie Annoussamy , Andreea M Seferian , Aurore Daron , Yann Péréon , Claude Cances , Carole Vuillerot , Liesbeth De Waele , Vincent Laugel , Ulrike Schara , Teresa Gidaro , Charlotte Lilien , Jean-Yves Hogrel , Pierre Carlier , Emmanuel Fournier , Linda Lowes , Ksenija Gorni , Myriam Ly-Le Moal , Nicole Hellbach , Timothy Seabrook , Christian Czech , Ricardo Hermosilla , Laurent Servais , Auteur inconnu

Clinical and Mutation Spectra of Cockayne Syndrome in India.

Neurology India
Avec: Dhanya L Narayanan , Moni Tuteja , Adam D McIntyre , Robert A Hegele , Nadege Calmels , Cathy Obringer , Vincent Laugel , Kausik Mandal , Shubha R Phadke

Diagnostic and severity scores for Cockayne syndrome.

Orphanet journal of rare diseases
Avec: M A Spitz , F Severac , C Obringer , S Baer , N Le May , N Calmels , V Laugel

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Orphanet journal of rare diseases
Avec: Isabelle Desguerre , Rémi Barrois , Frédérique Audic , Christine Barnerias , Brigitte Chabrol , Jean Baptiste Davion , Julien Durigneux , Caroline Espil-Taris , Marta Gomez-Garcia de la Banda , Marine Guichard , Arnaud Isapof , Marie Christine Nougues , Vincent Laugel , Laure Le Goff , Sandra Mercier , Anne Pervillé , Christian Richelme , Marie Thibaud , Catherine Sarret , Cyril Schweitzer , Hervé Testard , Valérie Trommsdorff , Catherine Vanhulle , Ulrike Walther-Louvier , Cécilia Altuzarra , Mondher Chouchane , Juliette Ropars , Susana Quijano-Roy , Claude Cances

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Pediatric neurology
Avec: Sarah Baer , Audrey Schalk , Marguerite Miguet , Élise Schaefer , Salima El Chehadeh , Emmanuelle Ginglinger , Anne de Saint Martin , Marie-Thérèse Abi Wardé , Vincent Laugel , Yvan de Feraudy , Lucas Gauer , Edouard Hirsch , Clotilde Boulay , Claire Bansept , Anamaria Bolocan , Ismini Kitadinis , Aurélie Gouronc , Bénédicte Gérard , Amélie Piton , Sophie Scheidecker

Réseau de co-auteurs

Isabelle Desguerre 9 collaborations
Cathy Obringer 9 collaborations
Pascal Sabouraud 8 collaborations
Claude Cances 8 collaborations
Ulrike Walther-Louvier 7 collaborations
Nadège Calmels 7 collaborations
Susana Quijano-Roy 7 collaborations
Catherine Sarret 6 collaborations
Brigitte Chabrol 6 collaborations
Julien Durigneux 6 collaborations
Christine Barnerias 6 collaborations
Sarah Baer 5 collaborations
Frédérique Audic 5 collaborations
Arnaud Isapof 5 collaborations
Carole Vuillerot 5 collaborations
Caroline Espil-Taris 5 collaborations
V Laugel 5 collaborations
Jean-Marie Cuisset 5 collaborations
Yann Péréon 5 collaborations
None None 4 collaborations
Marie-Aude Spitz 4 collaborations
Christian Richelme 4 collaborations
Juliette Ropars 4 collaborations
Hervé Testard 4 collaborations
Emmanuelle Lagrue 4 collaborations
Catherine Vanhulle 4 collaborations
Klaus Dieterich 3 collaborations
Jean-Marc Egly 3 collaborations
Bertrand Isidor 3 collaborations
Yvan de Feraudy 3 collaborations
Rabah Ben Yaou 3 collaborations
Karim Wahbi 3 collaborations
Laurent Servais 3 collaborations
Helge Amthor 3 collaborations
Mélanie Fradin 3 collaborations
Salima El Chehadeh 3 collaborations
Amélie Piton 3 collaborations
Cyril Mignot 3 collaborations
Valérie Trommsdorff 3 collaborations
Anne Pervillé 3 collaborations
Mondher Chouchane 3 collaborations
Ivana Dabaj 3 collaborations
Armelle Magot 3 collaborations
Michèle Mayer 3 collaborations
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