Nadège Calmels

Affiliations

Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.

Publications (22)

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

European journal of medical genetics

Avec: Benjamin Durand , Corinne Stoetzel , Elise Schaefer , Sophie Scheidecker , Nadine Kempf , Charlie De Melo , Anne-Sophie Guilbert , Dana Timbolschi , Leonardo Donato , Dominique Astruc , Arnaud Sauer , Maria Cristina Antal , Hélène Dollfus , Salima El Chehadeh

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 ,

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Journal of neurology

Avec: Jean-Marie Ravel , Mehdi Benkirane , Cecilia Marelli , Fabienne Ory-Magne , Claire Ewenczyk , Yosra Halleb , François Tison , Claire Lecocq , Guillaume Pische , Philippe Casenave , Annabelle Chaussenot , Solène Frismand , Louise Tyvaert , Lise Larrieu , Morgane Pointaux , Nathalie Drouot , Carine Bossenmeyer-Pourié , Abderrahim Oussalah , Jean-Louis Guéant , Bruno Leheup , Céline Bonnet , Mathieu Anheim , Christine Tranchant , Laëtitia Lambert , Jamel Chelly , Michel Koenig , Mathilde Renaud

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 , 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 , Sami Bouchoucha , Cathy Obringer , Khouloud Zayoud , Benjamin Montagne , Ridha M'rad , Sonia Abdelhak , Vincent Laugel , Miria Ricchetti , Ilhem Turki , Houda Yacoub-Youssef

Highlighting the Dystonic Phenotype Related to GNAO1.

Movement disorders : official journal of the Movement Disorder Society

Avec: Thomas Wirth , Giacomo Garone , Manju A Kurian , Amélie Piton , Francisca Millan , Aida Telegrafi , Nathalie Drouot , Gabrielle Rudolf , Jamel Chelly , Warren Marks , Lydie Burglen , Diane Demailly , Phillipe Coubes , Mayte Castro-Jimenez , Sylvie Joriot , Jamal Ghoumid , Jérémie Belin , Jean-Marc Faucheux , Lubov Blumkin , Mariam Hull , Mered Parnes , Claudia Ravelli , Gaëtan Poulen , Andrea H Nemeth , Martin Smith , Angela Barnicoat , Claire Ewenczyk , Aurélie Méneret , Emmanuel Roze , Boris Keren , Cyril Mignot , Christophe Beroud , Fernando Acosta , Catherine Nowak , William G Wilson , Dora Steel , Alessandro Capuano , Marie Vidailhet , Jean-Pierre Lin , Christine Tranchant , Laura Cif , Diane Doummar , Mathieu Anheim

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

Identification and Characterization of a Novel Recurrent

Genes

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

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

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Movement disorders : official journal of the Movement Disorder Society

Avec: Thomas Wirth , Guillemette Clément , Clarisse Delvallée , Céline Bonnet , Thomas Bogdan , Andra Iosif , Audrey Schalk , Jean-Baptiste Chanson , David Pellerin , Bernard Brais , Virginie Roth , Marion Wandzel , Marie-Céline Fleury , Amélie Piton , Izzie Jacques Namer , Stéphane Kremer , Christine Tranchant , Mathilde Renaud , Mathieu Anheim

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Journal of neurology

Avec: Thomas Wirth , Céline Bonnet , Clarisse Delvallée , David Pellerin , Thomas Bogdan , Guillemette Clément , Audrey Schalk , Jean-Baptiste Chanson , Marie-Céline Fleury , Amélie Piton , Izzie Jacques Namer , Stéphane Kremer , Bernard Brais , Christine Tranchant , Mathilde Renaud , Mathieu Anheim

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 , Vincent Laugel

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.

Journal of neurology

Avec: T Bogdan , T Wirth , A Iosif , A Schalk , S Montaut , C Bonnard , G Carre , O Lagha-Boukbiza , C Reschwein , E Albugues , S Demuth , H Landsberger , M Einsiedler , T Parratte , A Nguyen , F Lamy , H Durand , P Fahrer , P Voulleminot , K Bigaut , J B Chanson , G Nicolas , J Chelly , C Cazeneuve , M Koenig , C Bund , I J Namer , S Kremer , N Calmels , C Tranchant , M Anheim

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.

Annals of neurology

Avec: Philip Harrer , Audrey Schalk , Masaru Shimura , Sarah Baer , Marie Aude Spitz , Marie-Thérèse Abi Warde , Elise Schaefer , Volker M Sc Kittke , Yasemin Dincer , Matias Wagner , Ivana Dzinovic , Riccardo Berutti , Tatsuharu Sato , Toshihiko Shirakawa , Yasushi Okazaki , Kei Murayama , Konrad Oexle , Holger Prokisch , Volker Mall , Ivo Melčák , Juliane Winkelmann , Michael Zech

Renal disease in Cockayne syndrome.

European journal of medical genetics

Avec: Amélie Stern-Delfils , Marie-Aude Spitz , Myriam Durand , Cathy Obringer , Jérôme Olagne , Komala Pillay , Karen Fieggen , Vincent Laugel , Ariane Zaloszyc

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

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 , 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

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Forensic science international. Genetics

Avec: Lila Krebs-Drouot , Audrey Schalk , Elise Schaefer , Christine Keyser , Angela Gonzalez , Marie-Thérèse Abi Wardé , Laetitia Oertel , C Écile Acquaviva , Jean-Louis Mandel , Audrey Farrugia

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.

Skeletal muscle

Avec: Inès Barthélémy , Robert B Weiss , Laurent Tiret , Adeline Vulin , Nicolas Wein , Cécile Peccate , Carole Drougard , Christophe Beroud , Nathalie Deburgrave , Jean-Laurent Thibaud , Catherine Escriou , Isabel Punzón , Luis Garcia , Jean-Claude Kaplan , Kevin M Flanigan , France Leturcq , Stéphane Blot

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Thomas Wirth , Emmanuel Roze , Clarisse Delvallée , Oriane Trouillard , Nathalie Drouot , Philippe Damier , Clotilde Boulay , Marine Bourgninaud , Prasanthi Jegatheesan , Aude Sangare , Sylvie Forlani , Bertrand Gaymard , Remi Hervochon , Vincent Navarro , Audrey Schalk , Christine Tranchant , Amélie Piton , Aurélie Méneret , Mathieu Anheim

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.

Gene

Avec: Ainhoa Martínez-Pizarro , Audrey Schalk , Camille Wicker , Eva Richard , Lourdes R Desviat

Réseau de co-auteurs

Cathy Obringer 9 collaborations

Vincent Laugel 9 collaborations

Audrey Schalk 6 collaborations

Mathieu Anheim 5 collaborations

Christine Tranchant 5 collaborations

Sarah Baer 4 collaborations

Thomas Wirth 4 collaborations

Amélie Piton 4 collaborations

Elise Schaefer 3 collaborations

Nathalie Drouot 3 collaborations

Céline Bonnet 3 collaborations

Jamel Chelly 3 collaborations

Mathilde Renaud 3 collaborations

N Calmels 3 collaborations

Clarisse Delvallée 3 collaborations

Salima El Chehadeh 2 collaborations

Geneviève Baujat 2 collaborations

Lydie Burglen 2 collaborations

Claire Ewenczyk 2 collaborations

Myriam Durand 2 collaborations

Nicolas Le May 2 collaborations

Asma Chikhaoui 2 collaborations

Ichraf Kraoua 2 collaborations

Sami Bouchoucha 2 collaborations

Khouloud Zayoud 2 collaborations

Miria Ricchetti 2 collaborations

Ilhem Turki 2 collaborations

Houda Yacoub-Youssef 2 collaborations

Aurélie Méneret 2 collaborations

Emmanuel Roze 2 collaborations

Christophe Beroud 2 collaborations

Nadege Calmels 2 collaborations

V Laugel 2 collaborations

Guillemette Clément 2 collaborations

Thomas Bogdan 2 collaborations

Jean-Baptiste Chanson 2 collaborations

David Pellerin 2 collaborations

Bernard Brais 2 collaborations

Marie-Céline Fleury 2 collaborations

Izzie Jacques Namer 2 collaborations

Stéphane Kremer 2 collaborations

Benjamin Durand 1 collaboration

Corinne Stoetzel 1 collaboration

Sophie Scheidecker 1 collaboration

Nadine Kempf 1 collaboration

Charlie De Melo 1 collaboration

Anne-Sophie Guilbert 1 collaboration

Dana Timbolschi 1 collaboration

Leonardo Donato 1 collaboration

Dominique Astruc 1 collaboration

Arnaud Sauer 1 collaboration

Maria Cristina Antal 1 collaboration

Hélène Dollfus 1 collaboration

Sophie Julia 1 collaboration

Jameleddine Chelly 1 collaboration

Yline Capri 1 collaboration

Domitille Gras 1 collaboration

Têmis Maria Felix 1 collaboration

Berenice Doray 1 collaboration

Jaime Sanchez Del Pozo 1 collaboration

Lina M Ramos 1 collaboration

Jean-Marie Ravel 1 collaboration

Mehdi Benkirane 1 collaboration

Cecilia Marelli 1 collaboration

Fabienne Ory-Magne 1 collaboration

Yosra Halleb 1 collaboration

François Tison 1 collaboration

Claire Lecocq 1 collaboration

Guillaume Pische 1 collaboration

Philippe Casenave 1 collaboration

Annabelle Chaussenot 1 collaboration

Solène Frismand 1 collaboration

Louise Tyvaert 1 collaboration

Lise Larrieu 1 collaboration

Morgane Pointaux 1 collaboration

Carine Bossenmeyer-Pourié 1 collaboration

Abderrahim Oussalah 1 collaboration

Jean-Louis Guéant 1 collaboration

Bruno Leheup 1 collaboration

Laëtitia Lambert 1 collaboration

Michel Koenig 1 collaboration

Nicolas Tuzin 1 collaboration

Peter B Kang 1 collaboration

Shehla Mohammed 1 collaboration

Masaya Kubota 1 collaboration

Yvette van Ierland 1 collaboration

Tiffany Busa 1 collaboration

Massimiliano Rossi 1 collaboration

Godelieve Morel 1 collaboration

Caroline Michot 1 collaboration

Benjamin Montagne 1 collaboration

Ridha M'rad 1 collaboration

Sonia Abdelhak 1 collaboration

Giacomo Garone 1 collaboration

Manju A Kurian 1 collaboration

Francisca Millan 1 collaboration

Aida Telegrafi 1 collaboration

Gabrielle Rudolf 1 collaboration

Warren Marks 1 collaboration

Diane Demailly 1 collaboration

Phillipe Coubes 1 collaboration

Mayte Castro-Jimenez 1 collaboration

Sylvie Joriot 1 collaboration

Jamal Ghoumid 1 collaboration

Jérémie Belin 1 collaboration

Jean-Marc Faucheux 1 collaboration

Lubov Blumkin 1 collaboration

Mariam Hull 1 collaboration

Mered Parnes 1 collaboration

Claudia Ravelli 1 collaboration

Gaëtan Poulen 1 collaboration

Andrea H Nemeth 1 collaboration

Martin Smith 1 collaboration

Angela Barnicoat 1 collaboration

Boris Keren 1 collaboration

Cyril Mignot 1 collaboration

Fernando Acosta 1 collaboration

Catherine Nowak 1 collaboration

William G Wilson 1 collaboration

Dora Steel 1 collaboration

Alessandro Capuano 1 collaboration

Marie Vidailhet 1 collaboration

Jean-Pierre Lin 1 collaboration

Laura Cif 1 collaboration

Diane Doummar 1 collaboration

Alexey Epanchintsev 1 collaboration

Marc-Alexander Rauschendorf 1 collaboration

Federico Costanzo 1 collaboration

Alain Sarasin 1 collaboration

Frederic Coin 1 collaboration

Jean-Marc Egly 1 collaboration

Clément Crochemore 1 collaboration

Dorra Najjar 1 collaboration

Sinda Zarrouk 1 collaboration

Najoua Miladi 1 collaboration

Dhanya L Narayanan 1 collaboration

Moni Tuteja 1 collaboration

Adam D McIntyre 1 collaboration

Robert A Hegele 1 collaboration

Kausik Mandal 1 collaboration

Shubha R Phadke 1 collaboration

M A Spitz 1 collaboration

F Severac 1 collaboration

C Obringer 1 collaboration

S Baer 1 collaboration

N Le May 1 collaboration

Andra Iosif 1 collaboration

Virginie Roth 1 collaboration

Marion Wandzel 1 collaboration

Rayanne Damaj-Fourcade 1 collaboration

Nicolas Meyer 1 collaboration

T Bogdan 1 collaboration

T Wirth 1 collaboration

A Iosif 1 collaboration

A Schalk 1 collaboration

S Montaut 1 collaboration

C Bonnard 1 collaboration

G Carre 1 collaboration

O Lagha-Boukbiza 1 collaboration

C Reschwein 1 collaboration

E Albugues 1 collaboration

S Demuth 1 collaboration

H Landsberger 1 collaboration

M Einsiedler 1 collaboration

T Parratte 1 collaboration

A Nguyen 1 collaboration

F Lamy 1 collaboration

H Durand 1 collaboration

P Fahrer 1 collaboration

P Voulleminot 1 collaboration

K Bigaut 1 collaboration

J B Chanson 1 collaboration

G Nicolas 1 collaboration

J Chelly 1 collaboration

C Cazeneuve 1 collaboration

M Koenig 1 collaboration

C Bund 1 collaboration

I J Namer 1 collaboration

S Kremer 1 collaboration

C Tranchant 1 collaboration

M Anheim 1 collaboration

Philip Harrer 1 collaboration

Masaru Shimura 1 collaboration

Marie Aude Spitz 1 collaboration

Marie-Thérèse Abi Warde 1 collaboration

Volker M Sc Kittke 1 collaboration

Yasemin Dincer 1 collaboration

Matias Wagner 1 collaboration

Ivana Dzinovic 1 collaboration

Riccardo Berutti 1 collaboration

Tatsuharu Sato 1 collaboration

Toshihiko Shirakawa 1 collaboration

Yasushi Okazaki 1 collaboration

Kei Murayama 1 collaboration

Konrad Oexle 1 collaboration

Holger Prokisch 1 collaboration

Volker Mall 1 collaboration

Ivo Melčák 1 collaboration

Juliane Winkelmann 1 collaboration

Michael Zech 1 collaboration

Amélie Stern-Delfils 1 collaboration

Marie-Aude Spitz 1 collaboration

Jérôme Olagne 1 collaboration

Komala Pillay 1 collaboration

Karen Fieggen 1 collaboration

Ariane Zaloszyc 1 collaboration

L P Castro 1 collaboration

M Sahbatou 1 collaboration

F S G Kehdy 1 collaboration

A A Farias 1 collaboration

A A Yurchenko 1 collaboration

T A de Souza 1 collaboration

R C A Rosa 1 collaboration

C T Mendes-Junior 1 collaboration

V Borda 1 collaboration

V Munford 1 collaboration

É A Zanardo 1 collaboration

S N Chehimi 1 collaboration

L D Kulikowski 1 collaboration

M M Aquino 1 collaboration

T P Leal 1 collaboration

E Tarazona-Santos 1 collaboration

S C Chaibub 1 collaboration

B Gener 1 collaboration

A Sarasin 1 collaboration

C F M Menck 1 collaboration

Pauline Le Van Quyen 1 collaboration

Maryse Bonnière 1 collaboration

Suzanne Chartier 1 collaboration

Féréchté Razavi 1 collaboration

Lucile Boutaud 1 collaboration

Séverine Bacrot 1 collaboration

Romain Favre 1 collaboration

Tania Attié-Bitach 1 collaboration

Maria C Antal 1 collaboration

Lila Krebs-Drouot 1 collaboration

Christine Keyser 1 collaboration

Angela Gonzalez 1 collaboration

Marie-Thérèse Abi Wardé 1 collaboration

Laetitia Oertel 1 collaboration

C Écile Acquaviva 1 collaboration

Jean-Louis Mandel 1 collaboration

Audrey Farrugia 1 collaboration

Inès Barthélémy 1 collaboration

Robert B Weiss 1 collaboration

Laurent Tiret 1 collaboration

Adeline Vulin 1 collaboration

Nicolas Wein 1 collaboration

Cécile Peccate 1 collaboration

Carole Drougard 1 collaboration

Nathalie Deburgrave 1 collaboration

Jean-Laurent Thibaud 1 collaboration

Catherine Escriou 1 collaboration

Isabel Punzón 1 collaboration

Luis Garcia 1 collaboration

Jean-Claude Kaplan 1 collaboration

Kevin M Flanigan 1 collaboration

France Leturcq 1 collaboration

Stéphane Blot 1 collaboration

Oriane Trouillard 1 collaboration

Philippe Damier 1 collaboration

Clotilde Boulay 1 collaboration

Marine Bourgninaud 1 collaboration

Prasanthi Jegatheesan 1 collaboration

Aude Sangare 1 collaboration

Sylvie Forlani 1 collaboration

Bertrand Gaymard 1 collaboration

Remi Hervochon 1 collaboration

Vincent Navarro 1 collaboration

Ainhoa Martínez-Pizarro 1 collaboration

Camille Wicker 1 collaboration

Eva Richard 1 collaboration

Lourdes R Desviat 1 collaboration