Genevieve Bernard

Genevieve Bernard

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Genevieve Bernard

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POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Neurogenetics 2020 Jan 15. Epub 2020 Jan 15.

Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Vrije Universiteit, and Amsterdam Neuroscience, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10048-019-00602-4DOI Listing
January 2020

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Mol Genet Genomic Med 2019 Dec 26;7(12):e1000. Epub 2019 Oct 26.

Medical Genetics, Department of Pediatrics, Université de Sherbrooke-CHUS, Sherbrooke, QC, Canada.

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http://dx.doi.org/10.1002/mgg3.1000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900358PMC
December 2019

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

Patient-Derived Stem Cells, Another Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

Front Pediatr 2019 6;7:225. Epub 2019 Jun 6.

Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.3389/fped.2019.00225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562499PMC
June 2019

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

J Child Neurol 2019 02 28;34(2):74-80. Epub 2018 Nov 28.

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 2019

Cancer-associated fibroblasts induce epithelial-mesenchymal transition of bladder cancer cells through paracrine IL-6 signalling.

BMC Cancer 2019 Feb 11;19(1):137. Epub 2019 Feb 11.

Centre de recherche en organogénèse expérimentale/LOEX, Regenerative Medicine Division, CHU de Québec-Université Laval Research Center, QC, Québec, Canada.

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http://dx.doi.org/10.1186/s12885-019-5353-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371428PMC
February 2019

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Mov Disord Clin Pract 2019 Feb 9;6(2):155-159. Epub 2019 Jan 9.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12715
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http://dx.doi.org/10.1002/mdc3.12715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384176PMC
February 2019

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

Exosomes Induce Fibroblast Differentiation into Cancer-Associated Fibroblasts through TGFβ Signaling.

Mol Cancer Res 2018 07 10;16(7):1196-1204. Epub 2018 Apr 10.

Urology Division, Department of Surgery, Laval University, Quebec, Canada.

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http://dx.doi.org/10.1158/1541-7786.MCR-17-0784DOI Listing
July 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

4H Leukodystrophy: Lessons from 3T Imaging.

Neuropediatrics 2018 04 27;49(2):112-117. Epub 2017 Nov 27.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0037-1608780DOI Listing
April 2018

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

Tissue-engineered human 3D model of bladder cancer for invasion study and drug discovery.

Biomaterials 2017 Nov 29;145:233-241. Epub 2017 Aug 29.

Centre de recherche en organogénèse expérimentale/LOEX, Regenerative Medicine Division, CHU de Québec Research Center, Québec, QC, Canada; Department of Surgery, Faculty of Medicine, Laval University, Quebec, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biomaterials.2017.08.041DOI Listing
November 2017

Pediatric leukodystrophies: The role of the otolaryngologist.

Int J Pediatr Otorhinolaryngol 2017 Oct 27;101:141-144. Epub 2017 Jul 27.

Department of Pediatric Otolaryngology - Head and Neck Surgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.07.039DOI Listing
October 2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Neuropediatrics 2017 Jun 1;48(3):152-160. Epub 2017 Mar 1.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0037-1599141DOI Listing
June 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Expert opinion and caution are imperative for interpretation of next generation sequencing data.

Eur J Med Genet 2016 Oct 12;59(10):519-21. Epub 2016 Aug 12.

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

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http://dx.doi.org/10.1016/j.ejmg.2016.08.002DOI Listing
October 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Production of a Bilayered Self-Assembled Skin Substitute Using a Tissue-Engineered Acellular Dermal Matrix.

Tissue Eng Part C Methods 2015 Dec;21(12):1297-305

1 Centre de recherche du CHU de Québec-Université Laval, axe médecine régénératrice and Centre de recherche en organogénèse expérimentale de l'Université Laval/LOEX , Quebec, Quebec, Canada .

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http://dx.doi.org/10.1089/ten.TEC.2015.0258DOI Listing
December 2015

Lysophosphatidic acid enhances collagen deposition and matrix thickening in engineered tissue.

J Tissue Eng Regen Med 2015 Nov 18;9(11):E65-75. Epub 2013 Feb 18.

Centre LOEX de l'Université Laval, Génie tissulaire et régénération: LOEX du Centre de recherche FRQS du Centre hospitalier affilié universitaire de Québec, Département de Chirurgie, Faculté de Médecine, Université Laval, Québec, QC, Canada.

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http://dx.doi.org/10.1002/term.1711DOI Listing
November 2015

Adipose-derived stromal cells for the reconstruction of a human vesical equivalent.

J Tissue Eng Regen Med 2015 Nov 11;9(11):E135-43. Epub 2013 Apr 11.

Centre LOEX de l'Université Laval, Génie Tissulaire et Régénération, LOEX du Centre de Recherche FRSQ du CHU de Québec, Département de Chirurgie, Faculté de Médecine, Université Laval, Québec, QC, Canada.

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http://dx.doi.org/10.1002/term.1717DOI Listing
November 2015

Mutations in RNF216 do not cause 4H syndrome.

Parkinsonism Relat Disord 2015 Nov 4;21(11):1387-8. Epub 2015 Sep 4.

Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.09.014DOI Listing
November 2015

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Neurogenetics 2015 Oct 11;16(4):315-8. Epub 2015 Aug 11.

Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.

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https://www.rareconnect.org/uploads/documents/novel-sil1-mut
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http://link.springer.com/10.1007/s10048-015-0455-z
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http://dx.doi.org/10.1007/s10048-015-0455-zDOI Listing
October 2015

Demonstration of the direct impact of ketamine on urothelium using a tissue engineered bladder model.

Can Urol Assoc J 2015 Sep-Oct;9(9-10):E613-7. Epub 2015 Sep 9.

Centre LOEX de l'Université Laval, Génie tissulaire et régénération, Centre de recherche FRQS du CHU de Québec, Axe Médecine Régénératrice, Québec, QC.

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http://dx.doi.org/10.5489/cuaj.2899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581927PMC
October 2015

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

J Child Neurol 2015 Sep 7;30(10):1371-4. Epub 2014 Nov 7.

Department of Neuroscience, Division of Neurology, CHU-Sainte-Justine, Montreal, Canada Departments of Pediatrics, Neurology and Neurosurgery, division of Pediatric Neurology, Montreal Children's Hospital, Montreal, Canada.

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http://journals.sagepub.com/doi/10.1177/0883073814555189
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http://dx.doi.org/10.1177/0883073814555189DOI Listing
September 2015

Characterization of a psoriatic skin model produced with involved or uninvolved cells.

J Tissue Eng Regen Med 2015 Jul 20;9(7):789-98. Epub 2012 Dec 20.

Laboratoire d'Organogénèse Expérimentale, Centre de Recherche FRSQ du CHU de Québec, Canada.

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http://dx.doi.org/10.1002/term.1666DOI Listing
July 2015

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Neuropediatrics 2015 Jun 8;46(3):221-8. Epub 2015 May 8.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1550148
Publisher Site
http://dx.doi.org/10.1055/s-0035-1550148DOI Listing
June 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Orphanet J Rare Dis 2015 Jun 5;10:69. Epub 2015 Jun 5.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.

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http://dx.doi.org/10.1186/s13023-015-0279-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Case Rep Endocrinol 2015 31;2015:314594. Epub 2015 May 31.

Division of Endocrinology & Metabolism, University of Calgary, 1820 Richmond Road SW, Calgary, AB, Canada T2T 5C7.

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http://dx.doi.org/10.1155/2015/314594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465690PMC
June 2015

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Mol Genet Metab 2015 Apr 27;114(4):516-26. Epub 2014 Dec 27.

Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140082
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http://dx.doi.org/10.1016/j.ymgme.2014.12.433DOI Listing
April 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

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

Authors:
Yanick 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 Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.

Neuropediatrics 2014 Dec 24;45(6):406-10. Epub 2014 Oct 24.

Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.

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http://dx.doi.org/10.1055/s-0034-1393710DOI Listing
December 2014

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

Increased Prevalence of Non-motor Symptoms in Essential Tremor.

Tremor Other Hyperkinet Mov (N Y) 2014 2;4:162. Epub 2014 Sep 2.

André-Barbeau Movement Disorders Unit Service of Neurology, Centre Hospitalier de l'Université de Montréal and Department of Medicine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.7916/D82V2D91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159683PMC
September 2014

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Neurogenetics 2014 Aug 21;15(3):161-4. Epub 2014 Jun 21.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada,

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http://dx.doi.org/10.1007/s10048-014-0412-2DOI Listing
August 2014

Vanishing white matter disease in French-Canadian patients from Quebec.

Pediatr Neurol 2014 Aug 14;51(2):225-32. Epub 2014 May 14.

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.006DOI Listing
August 2014

Hypomyelinating leukodystrophies: translational research progress and prospects.

Ann Neurol 2014 Jul 24;76(1):5-19. Epub 2014 Jun 24.

Department of Physics and Medical Technology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.24194DOI Listing
July 2014

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

J Child Neurol 2014 Feb 7;29(2):214-20. Epub 2013 Oct 7.

1Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073813503902DOI Listing
February 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

Neurology 2013 Nov;81(19):e145

From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000435300.64776.7eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812106PMC
November 2013

An endothelialized urothelial cell-seeded tubular graft for urethral replacement.

Can Urol Assoc J 2013 Jan-Feb;7(1-2):E4-9

Département de Chirurgie, Faculté de Médecine, Université Laval, Québec, QC;

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http://dx.doi.org/10.5489/cuaj.12217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559612PMC
July 2013

A treatable new cause of chorea: beta-ketothiolase deficiency.

Mov Disord 2013 Jul 1;28(8):1054-6. Epub 2013 Jul 1.

Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc, Canada.

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http://dx.doi.org/10.1002/mds.25538DOI Listing
July 2013

Abnormal myelination in ring chromosome 18 syndrome.

J Child Neurol 2012 Aug 30;27(8):1042-7. Epub 2012 Jan 30.

Division of Pediatric Neurology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073811430268DOI Listing
August 2012

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Arch Neurol 2012 Jul;69(7):920-3

Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia.

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http://dx.doi.org/10.1001/archneurol.2011.1963DOI Listing
July 2012

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

Arch Neurol 2012 Jun;69(6):765-68

Department of Neuroradiology, Montreal Neurological Institute, McGill University, Quebec, Canada.

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http://dx.doi.org/10.1001/archneurol.2011.1942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154510PMC
June 2012

Ataxia-telangiectasia presenting with a novel immunodeficiency.

Pediatr Neurol 2012 May;46(5):322-4

Division of Neurology, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.02.027DOI Listing
May 2012

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

Can J Neurol Sci 2012 Mar;39(2):220-4

Department of Pathology, University College Cork, Ireland.

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http://dx.doi.org/10.1017/s0317167100013263DOI Listing
March 2012

Mechanical stimuli-induced urothelial differentiation in a human tissue-engineered tubular genitourinary graft.

Eur Urol 2011 Dec 12;60(6):1291-8. Epub 2011 Jun 12.

Centre LOEX de l'Université Laval, Génie tissulaire et régénération: LOEX - Centre de recherche FRSQ du Centre hospitalier affilié universitaire de Québec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S030228381100599
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http://dx.doi.org/10.1016/j.eururo.2011.05.051DOI Listing
December 2011

Surgical option for the correction of Peyronie's disease: an autologous tissue-engineered endothelialized graft.

J Sex Med 2011 Nov 30;8(11):3227-35. Epub 2011 Jun 30.

Department of Urology, CHUQ, Laval University, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1743-6109.2011.02374.xDOI Listing
November 2011

Effects of serum-free culture at the air-liquid interface in a human tissue-engineered skin substitute.

Tissue Eng Part A 2011 Apr 10;17(7-8):877-88. Epub 2011 Jan 10.

Centre LOEX de l'Université Laval, Génie tissulaire et régénération: LOEX-Centre de recherche FRSQ du Centre hospitalier affilié universitaire de Québec, Québec, Canada.

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http://dx.doi.org/10.1089/ten.TEA.2010.0256DOI Listing
April 2011

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics 2010 Oct 17;11(4):457-64. Epub 2010 Jul 17.

Laboratoire de neurogénétique de la motricité, Neuromics Center for Excellence of Université de Montréal, CRCHUM, 1560 Sherbrooke East, Montreal, Quebec, H2L 4M1, Canada.

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http://dx.doi.org/10.1007/s10048-010-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147760PMC
October 2010

A case of secondary dystonia responding to levodopa.

J Child Neurol 2010 Jun 6;25(6):780-1. Epub 2009 Oct 6.

CHUM Notre-Dame, Unité des troubles du Mouvement, Montreal, Quebec H2L 4M1, Canada.

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http://dx.doi.org/10.1177/0883073809346847DOI Listing
June 2010

In vitro reconstruction of an autologous, watertight, and resistant vesical equivalent.

Tissue Eng Part A 2010 May;16(5):1539-48

Laboratoire d'Organogénèse EXpérimentale (LOEX), Centre de recherche FRSQ du CHA de Québec, Department of Surgery, Faculty of Medicine, Laval University, Québec, QC, Canada.

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http://dx.doi.org/10.1089/ten.TEA.2009.0473DOI Listing
May 2010

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.

Epileptic Disord 2008 Dec;10(4):254-9

Montreal Neurological Institute and Hospital, Quebec, Canada.

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http://dx.doi.org/10.1684/epd.2008.0212DOI Listing
December 2008

The wobbly child: an approach to inherited ataxias.

Semin Pediatr Neurol 2008 Dec;15(4):194-208

Department of Neurology/Neurosurgery, McGill University, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.spen.2008.10.011DOI Listing
December 2008

Acute combined central and peripheral nervous system demyelination in children.

Pediatr Neurol 2008 Nov;39(5):307-16

Department of Paediatrics, Sainte-Justine Hospital, Université de Montréal, Montreal, Quebec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940800354
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http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.022DOI Listing
November 2008

Simultaneous Guillain-Barré syndrome and acute disseminated encephalomyelitis in the pediatric population.

J Child Neurol 2008 Jul 19;23(7):752-7. Epub 2008 Mar 19.

Division of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Quebec, Canada.

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http://journals.sagepub.com/doi/10.1177/0883073808314360
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http://dx.doi.org/10.1177/0883073808314360DOI Listing
July 2008

Channelopathies: a review.

Pediatr Neurol 2008 Feb;38(2):73-85

Department of Neurology/Neurosurgery, McGill University, Montreal Children's Hospital-McGill University Health Center, Montreal, Quebec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940700458
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http://dx.doi.org/10.1016/j.pediatrneurol.2007.09.007DOI Listing
February 2008

Dosage effect of a dominant CLCN1 mutation: a novel syndrome.

J Child Neurol 2008 Feb;23(2):163-6

Department of Neurology/Neurosurgery, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073807307974DOI Listing
February 2008

Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions.

Brain Res Rev 2008 Jan 31;57(1):228-40. Epub 2007 Jul 31.

Group and Centre for Research in Neurological Sciences, Multidisciplinary team in Locomotor Rehabilitation (CIHR), Department of Physiology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada H3C 3J7.

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http://dx.doi.org/10.1016/j.brainresrev.2007.06.019DOI Listing
January 2008

Neurotransmitter diseases and related conditions.

Mol Genet Metab 2007 Nov;92(3):189-97

Department of Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.117DOI Listing
November 2007

Physical characterization of the stratum corneum of an in vitro psoriatic skin model by ATR-FTIR and Raman spectroscopies.

Biochim Biophys Acta 2007 Sep 12;1770(9):1317-23. Epub 2007 Jul 12.

Département de Chimie, Université Laval, Québec, Québec, Canada G1K 7P4.

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http://dx.doi.org/10.1016/j.bbagen.2007.06.014DOI Listing
September 2007

Study of cutaneous reflex compensation during locomotion after nerve section in the cat.

J Neurophysiol 2007 Jun 28;97(6):4173-85. Epub 2007 Mar 28.

Groupe de Recherche sur le Système Nerveux Central, Centre de Recherche en Sciences Neurologiques, Département de Physiologie, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1152/jn.00797.2006DOI Listing
June 2007

Insights on the interactions of synthetic amphipathic peptides with model membranes as revealed by 31P and 2H solid-state NMR and infrared spectroscopies.

Biophys J 2006 Jun 13;90(11):4071-84. Epub 2006 Mar 13.

Département de Chimie, Centre de Recherche sur la Fonction, la Structure et l'Ingénierie des Protéines, Centre de Recherche en Sciences et Ingénierie des Macromolécules, Université Laval, Québec, Québec, Canada G1K 7P4.

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http://dx.doi.org/10.1529/biophysj.105.077339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459497PMC
June 2006