Publications by authors named "Laurence Gauquelin"

8Publications

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

Neurol Genet 2020 Jun 11;6(3):e425. Epub 2020 May 11.

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.

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http://dx.doi.org/10.1212/NXG.0000000000000425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238899PMC
June 2020

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

Neurology 2020 04 13;94(14):631-634. Epub 2020 Mar 13.

From the Division of Clinical and Metabolic Genetics (L.G., G.Y.) and Division of Neurology (L.G., E.W.Y.T., S.P.M., G.Y.), Department of Paediatrics, and Division of Pathology, Department of Paediatric Laboratory Medicine (C.H.), The Hospital for Sick Children, University of Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000009223DOI Listing
April 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate.

Tremor Other Hyperkinet Mov (N Y) 2017 26;7:508. Epub 2017 Oct 26.

Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.

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http://dx.doi.org/10.7916/D84X5M9ZDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666014PMC
September 2018

Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin.

Child Neurol Open 2017 Jan-Dec;4:2329048X17733215. Epub 2017 Sep 22.

Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Québec, Canada.

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http://journals.sagepub.com/doi/10.1177/2329048X17733215
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http://dx.doi.org/10.1177/2329048X17733215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613794PMC
September 2017

Failed thrombolysis in a 56 year old aphasic and hemiplegic patient, what's next?

Int J Case Rep Imag 2015;6(12):780-782

Faculté de médecine, Université Laval, Québec, Canada; Département de radiologie, CHU de Québec, Québec, Canada; Département des sciences neurologiques, CHU de Québec, Québec, Canada; Clinique Interdisciplinaire de mémoire, CHU de Québec, Québec, Canada.

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http://dx.doi.org/10.5348/ijcri-201536-CL-10091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716827PMC
January 2015