Laurence Gauquelin

Affiliations

Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.

Publications (11)

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Neurology. Genetics

Avec: Stefanie Perrier , Catherine Fallet-Bianco , Megan K Dishop , Mackenzie A Michell-Robinson , Luan T Tran , Kether Guerrero , Lama Darbelli , Myriam Srour , Kevin Petrecca , Deborah L Renaud , Michael Saito , Seth Cohen , Steffen Leiz , Bader Alhaddad , Tobias B Haack , Ingrid Tejera-Martin , Fernando I Monton , Norberto Rodriguez-Espinosa , Daniela Pohl , Savithri Nageswaran , Annette Grefe , Emma Glamuzina , Geneviève Bernard

Evaluation of real-world mepolizumab use in severe asthma across Europe: the SHARP experience with privacy-preserving federated analysis.

ERJ open research

Avec: Johannes A Kroes , Rafael Alfonso-Cristancho , Aruna T Bansal , Emmanuelle Berret , Kristina Bieksiene , Arnaud Bourdin , Luisa Brussino , Diogo Canhoto , Cristina Cardini , Gulfem Celik , Zsuzsanna Csoma , Barbro Dahlén , Ebru Damadoglu , Katrien Eger , Lisa Gauquelin , Bilun Gemicioglu , Ozlem Goksel , Sophie Graff , Enrico Heffler , Hendrik B Hofstee , Peter Howarth , Rupert W Jakes , Fabienne Jaun , Virginija Kalinauskaite-Zukauske , Peter Kopač , Namhee Kwon , Claudia C Loureiro , Victor Lozoya García , Matthew Masoli , Mariana Paula Rezelj , Luis Pérez De Llano , Sanja Popović-Grle , David Ramos-Barbón , Ana Sà Sousa , Konstantinos Samitas , Florence Schleich , Concetta Sirena , Sabina Skrgat , Eleftherios Zervas , George Zichnalis , Elisabeth H Bel , Jacob K Sont , Simone Hashimoto , Anneke Ten Brinke

Treatment and outcomes of older versus younger women with HER2-positive metastatic breast cancer in the real-world national ESME database.

Breast (Edinburgh, Scotland)

Avec: Mylène Annonay , Lisa Gauquelin , Romain Geiss , Mony Ung , Laurence Cristol-Dalstein , Marie-Ange Mouret-Reynier , Anthony Goncalves , Sophie Abadie-Lacourtoisie , Eric Francois , Christophe Perrin , Johan Le Fel , Véronique Lorgis , Véronique Servent , Lionel Uwer , Christelle Jouannaud , Marianne Leheurteur , Florence Joly , Loic Campion , Coralie Courtinard , Olivier Villacroux , Thierry Petit , Pierre Soubeyran , Catherine Terret , Carine Bellera , Etienne Brain , Suzette Delaloge

Anti-IL-4R versus Anti-IL-5/5R after Anti-IL-5/5R failure in asthma: an emulated target trial.

The Journal of allergy and clinical immunology

Avec: Solène Valery , Noémie Simon-Tillaux , Gilles Devouassoux , Philippe Bonniaud , Antoine Beurnier , Amel Boudjemaa , Cécile Chenivesse , Arnaud Bourdin , Lisa Gauquelin , Sylvie Guillo , Camille Taillé , Candice Estellat , Auteur inconnu

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic

Neurology. Genetics

Avec: Ferdy K Cayami , László Sztriha , Grace Yoon , Luan T Tran , Kether Guerrero , François Hocke , Rosalina M L van Spaendonk , Eva L Fung , Stefano D'Arrigo , Gessica Vasco , Isabelle Thiffault , Dmitriy M Niyazov , Richard Person , Kara Stuart Lewis , Evangeline Wassmer , Trine Prescott , Penny Fallon , Meriel McEntagart , Julia Rankin , Richard Webster , Heike Philippi , Bart van de Warrenburg , Dagmar Timmann , Abhijit Dixit , Claire Searle , Auteur inconnu , Nivedita Thakur , Michael C Kruer , Suvasini Sharma , Adeline Vanderver , Davide Tonduti , Marjo S van der Knaap , Enrico Bertini , Cyril Goizet , Sébastien Fribourg , Nicole I Wolf , Geneviève Bernard

Diagnostic accuracy and clinical impact of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) in Positron Emission Tomography - Computed Tomography (PET-CT)-positive mediastinal lymphadenopathies in patients with thoracic or extra-thoracic malignancies.

Clinics and research in hepatology and gastroenterology

Avec: Dominique Béchade , Carine Bellera , Lisa Gauquelin , Isabelle Soubeyran , Pippa McKelvie-Sebileau , Marc Debled , François Chomy , Guilhem Roubaud , Marianne Fonck , Simon Pernot , Alexandre Roch , Anne-Laure Cazeau

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Movement disorders clinical practice

Avec: Taila Hartley , Mark Tarnopolsky , David A Dyment , Bernard Brais , Michael T Geraghty , Martine Tétreault , Sohnee Ahmed , Samantha Rojas , Karine Choquet , Jacek Majewski , François Bernier , Allan Micheil Innes , Guy Rouleau , Oksana Suchowersky , Kym M Boycott , Grace Yoon

Diffusion-weighted MRI and PET/CT reproducibility in epithelial ovarian cancers during neoadjuvant chemotherapy.

Diagnostic and interventional imaging

Avec: Amandine Crombé , Lisa Gauquelin , Stéphanie Nougaret , Marine Chicart , Marina Pulido , Anne Floquet , Frédéric Guyon , Sabrina Croce , Michèle Kind , Anne-Laure Cazeau

Severe asthma care trajectories: the French RAMSES cohort.

ERJ open research

Avec: Jeanne-Marie Perotin , Lisa Gauquelin , Nicolas Just , Gilles Devouassoux , Cécile Chenivesse , Arnaud Bourdin , Gilles Garcia , Christel Saint Raymond , Amel Boudjemaa , Philippe Bonniaud , Pascal Chanez , Cindy Barnig , Antoine Beurnier , Cyril Maurer , Nathalie Freymond , Toufik Didi , Colas Tcherakian , Maud Russier , Mélanie Drucbert , Sylvie Guillo , Candice Estellat , Camille Taillé

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica

Avec: S Donkervoort , R Sabouny , P Yun , L Gauquelin , K R Chao , Y Hu , I Al Khatib , A Töpf , P Mohassel , B B Cummings , R Kaur , D Saade , S A Moore , L B Waddell , M A Farrar , J K Goodrich , P Uapinyoying , S H S Chan , A Javed , M E Leach , P Karachunski , J Dalton , L Medne , A Harper , C Thompson , I Thiffault , S Specht , R E Lamont , C Saunders , H Racher , F P Bernier , D Mowat , N Witting , J Vissing , R Hanson , K A Coffman , M Hainlen , J S Parboosingh , A Carnevale , G Yoon , R E Schnur , Auteur inconnu , K M Boycott , J K Mah , V Straub , A Reghan Foley , A M Innes , C G Bönnemann , T E Shutt

Inherited white matter disorders: Hypomyelination (myelin disorders).

Handbook of clinical neurology

Avec: Stefanie Perrier , Geneviève Bernard

Réseau de co-auteurs

Lisa Gauquelin 6 collaborations

Geneviève Bernard 3 collaborations

Arnaud Bourdin 3 collaborations

None None 3 collaborations

Stefanie Perrier 2 collaborations

Luan T Tran 2 collaborations

Kether Guerrero 2 collaborations

Carine Bellera 2 collaborations

Gilles Devouassoux 2 collaborations

Philippe Bonniaud 2 collaborations

Antoine Beurnier 2 collaborations

Amel Boudjemaa 2 collaborations

Cécile Chenivesse 2 collaborations

Sylvie Guillo 2 collaborations

Camille Taillé 2 collaborations

Candice Estellat 2 collaborations

Grace Yoon 2 collaborations

Anne-Laure Cazeau 2 collaborations

Catherine Fallet-Bianco 1 collaboration

Megan K Dishop 1 collaboration

Mackenzie A Michell-Robinson 1 collaboration

Lama Darbelli 1 collaboration

Myriam Srour 1 collaboration

Kevin Petrecca 1 collaboration

Deborah L Renaud 1 collaboration

Michael Saito 1 collaboration

Seth Cohen 1 collaboration

Steffen Leiz 1 collaboration

Bader Alhaddad 1 collaboration

Tobias B Haack 1 collaboration

Ingrid Tejera-Martin 1 collaboration

Fernando I Monton 1 collaboration

Norberto Rodriguez-Espinosa 1 collaboration

Daniela Pohl 1 collaboration

Savithri Nageswaran 1 collaboration

Annette Grefe 1 collaboration

Emma Glamuzina 1 collaboration

Johannes A Kroes 1 collaboration

Rafael Alfonso-Cristancho 1 collaboration

Aruna T Bansal 1 collaboration

Emmanuelle Berret 1 collaboration

Kristina Bieksiene 1 collaboration

Luisa Brussino 1 collaboration

Diogo Canhoto 1 collaboration

Cristina Cardini 1 collaboration

Gulfem Celik 1 collaboration

Zsuzsanna Csoma 1 collaboration

Barbro Dahlén 1 collaboration

Ebru Damadoglu 1 collaboration

Katrien Eger 1 collaboration

Bilun Gemicioglu 1 collaboration

Ozlem Goksel 1 collaboration

Sophie Graff 1 collaboration

Enrico Heffler 1 collaboration

Hendrik B Hofstee 1 collaboration

Peter Howarth 1 collaboration

Rupert W Jakes 1 collaboration

Fabienne Jaun 1 collaboration

Virginija Kalinauskaite-Zukauske 1 collaboration

Peter Kopač 1 collaboration

Namhee Kwon 1 collaboration

Claudia C Loureiro 1 collaboration

Victor Lozoya García 1 collaboration

Matthew Masoli 1 collaboration

Mariana Paula Rezelj 1 collaboration

Luis Pérez De Llano 1 collaboration

Sanja Popović-Grle 1 collaboration

David Ramos-Barbón 1 collaboration

Ana Sà Sousa 1 collaboration

Konstantinos Samitas 1 collaboration

Florence Schleich 1 collaboration

Concetta Sirena 1 collaboration

Sabina Skrgat 1 collaboration

Eleftherios Zervas 1 collaboration

George Zichnalis 1 collaboration

Elisabeth H Bel 1 collaboration

Jacob K Sont 1 collaboration

Simone Hashimoto 1 collaboration

Anneke Ten Brinke 1 collaboration

Mylène Annonay 1 collaboration

Romain Geiss 1 collaboration

Mony Ung 1 collaboration

Laurence Cristol-Dalstein 1 collaboration

Marie-Ange Mouret-Reynier 1 collaboration

Anthony Goncalves 1 collaboration

Sophie Abadie-Lacourtoisie 1 collaboration

Eric Francois 1 collaboration

Christophe Perrin 1 collaboration

Johan Le Fel 1 collaboration

Véronique Lorgis 1 collaboration

Véronique Servent 1 collaboration

Lionel Uwer 1 collaboration

Christelle Jouannaud 1 collaboration

Marianne Leheurteur 1 collaboration

Florence Joly 1 collaboration

Loic Campion 1 collaboration

Coralie Courtinard 1 collaboration

Olivier Villacroux 1 collaboration

Thierry Petit 1 collaboration

Pierre Soubeyran 1 collaboration

Catherine Terret 1 collaboration

Etienne Brain 1 collaboration

Suzette Delaloge 1 collaboration

Solène Valery 1 collaboration

Noémie Simon-Tillaux 1 collaboration

Ferdy K Cayami 1 collaboration

László Sztriha 1 collaboration

François Hocke 1 collaboration

Rosalina M L van Spaendonk 1 collaboration

Eva L Fung 1 collaboration

Stefano D'Arrigo 1 collaboration

Gessica Vasco 1 collaboration

Isabelle Thiffault 1 collaboration

Dmitriy M Niyazov 1 collaboration

Richard Person 1 collaboration

Kara Stuart Lewis 1 collaboration

Evangeline Wassmer 1 collaboration

Trine Prescott 1 collaboration

Penny Fallon 1 collaboration

Meriel McEntagart 1 collaboration

Julia Rankin 1 collaboration

Richard Webster 1 collaboration

Heike Philippi 1 collaboration

Bart van de Warrenburg 1 collaboration

Dagmar Timmann 1 collaboration

Abhijit Dixit 1 collaboration

Claire Searle 1 collaboration

Nivedita Thakur 1 collaboration

Michael C Kruer 1 collaboration

Suvasini Sharma 1 collaboration

Adeline Vanderver 1 collaboration

Davide Tonduti 1 collaboration

Marjo S van der Knaap 1 collaboration

Enrico Bertini 1 collaboration

Cyril Goizet 1 collaboration

Sébastien Fribourg 1 collaboration

Nicole I Wolf 1 collaboration

Dominique Béchade 1 collaboration

Isabelle Soubeyran 1 collaboration

Pippa McKelvie-Sebileau 1 collaboration

Marc Debled 1 collaboration

François Chomy 1 collaboration

Guilhem Roubaud 1 collaboration

Marianne Fonck 1 collaboration

Simon Pernot 1 collaboration

Alexandre Roch 1 collaboration

Taila Hartley 1 collaboration

Mark Tarnopolsky 1 collaboration

David A Dyment 1 collaboration

Bernard Brais 1 collaboration

Michael T Geraghty 1 collaboration

Martine Tétreault 1 collaboration

Sohnee Ahmed 1 collaboration

Samantha Rojas 1 collaboration

Karine Choquet 1 collaboration

Jacek Majewski 1 collaboration

François Bernier 1 collaboration

Allan Micheil Innes 1 collaboration

Guy Rouleau 1 collaboration

Oksana Suchowersky 1 collaboration

Kym M Boycott 1 collaboration

Amandine Crombé 1 collaboration

Stéphanie Nougaret 1 collaboration

Marine Chicart 1 collaboration

Marina Pulido 1 collaboration

Anne Floquet 1 collaboration

Frédéric Guyon 1 collaboration

Sabrina Croce 1 collaboration

Michèle Kind 1 collaboration

Jeanne-Marie Perotin 1 collaboration

Nicolas Just 1 collaboration

Gilles Garcia 1 collaboration

Christel Saint Raymond 1 collaboration

Pascal Chanez 1 collaboration

Cindy Barnig 1 collaboration

Cyril Maurer 1 collaboration

Nathalie Freymond 1 collaboration

Toufik Didi 1 collaboration

Colas Tcherakian 1 collaboration

Maud Russier 1 collaboration

Mélanie Drucbert 1 collaboration

S Donkervoort 1 collaboration

R Sabouny 1 collaboration

P Yun 1 collaboration

L Gauquelin 1 collaboration

K R Chao 1 collaboration

Y Hu 1 collaboration

I Al Khatib 1 collaboration

A Töpf 1 collaboration

P Mohassel 1 collaboration

B B Cummings 1 collaboration

R Kaur 1 collaboration

D Saade 1 collaboration

S A Moore 1 collaboration

L B Waddell 1 collaboration

M A Farrar 1 collaboration

J K Goodrich 1 collaboration

P Uapinyoying 1 collaboration

S H S Chan 1 collaboration

A Javed 1 collaboration

M E Leach 1 collaboration

P Karachunski 1 collaboration

J Dalton 1 collaboration

L Medne 1 collaboration

A Harper 1 collaboration

C Thompson 1 collaboration

I Thiffault 1 collaboration

S Specht 1 collaboration

R E Lamont 1 collaboration

C Saunders 1 collaboration

H Racher 1 collaboration

F P Bernier 1 collaboration

D Mowat 1 collaboration

N Witting 1 collaboration

J Vissing 1 collaboration

R Hanson 1 collaboration

K A Coffman 1 collaboration

M Hainlen 1 collaboration

J S Parboosingh 1 collaboration

A Carnevale 1 collaboration

G Yoon 1 collaboration

R E Schnur 1 collaboration

K M Boycott 1 collaboration

J K Mah 1 collaboration

V Straub 1 collaboration

A Reghan Foley 1 collaboration

A M Innes 1 collaboration

C G Bönnemann 1 collaboration

T E Shutt 1 collaboration