Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Autor: Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK., Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK., Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK., Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France., Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA., Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA., Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA., Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA., Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France., Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France., Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA., Henderson L; GeneDx, Gaithersburg, MD 20877, USA., Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France., Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil., Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Jun 01; Vol. 146 (6), pp. 2285-2297.

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Autor: Espinosa KG; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada., Geissah S; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada., Groom L; Department of Pharmacology and Physiology, University of Rochester Medical Centre, 601 Elmwood Avenue, Rochester, NY 14642, USA., Volpatti J; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada., Scott IC; Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada.; Program for Development and Stem Cell Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada., Dirksen RT; Department of Pharmacology and Physiology, University of Rochester Medical Centre, 601 Elmwood Avenue, Rochester, NY 14642, USA., Zhao M; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada., Dowling JJ; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada.; Department of Pediatrics, University of Toronto, Room 1436D, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2022 May 01; Vol. 15 (5). Date of Electronic Publication: 2022 May 09.

Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.

Autor: Mehmood, Hashir^1,2 (AUTHOR), Kasher, Paul R.^2,3 (AUTHOR), Barrett-Jolley, Richard¹ (AUTHOR), Walmsley, Gemma L.^1,4 (AUTHOR) glw22@liverpool.ac.uk

Publikováno v: BMC Veterinary Research. 10/18/2024, Vol. 20 Issue 1, p1-19. 19p.

P.239Therapy development for RYR1 related myopathies

Autor: Onofre-Oliveira, P., Brennan, S., Volpatti, J., Garcia-Castaneda, M., Michelucci, A., Groom, L., Sabha, N., Dirksen, R., Dowling, J.

Publikováno v: In Neuromuscular Disorders October 2019 29 Supplement 1:S136-S136

Piriformospora indica modifies cucumber’s tolerance to Meloidogyne incognita by regulating various agro-physiological traits, antioxidant enzymes, and abscisic acid pathway genes.

Autor: EL-MOGY, Mohamed M.^1,2 elmogy@kfu.edu.eg, ATIA, Mohamed A. M.³ matia@ageri.sci.eg, REYAD, Nour El-Houda A.⁴ nourelhoudareyad53@gmail.com, ABDELSATTAR, Mohamed⁵ mteima@ageri.sci.eg, IBRAHIM, Dina S. S.⁶ Dina.Serage@acr.sci.eg, MAHMOUD, Abdel Wahab M.⁷ mohamed.mahmoud@agr.cu.edu.eg, ABDELAZIZ, Suzy M.⁸ Drsuzy.abdelaziz@arc.sci.eg, ABDELDAYM, Emad A.² emad.Abdeldaym@agr.cu.edu.eg, ABDELAZIZ, Mohamed E.^2,9 mohamed.ewis@agr.cu.edu.eg

Publikováno v: Notulae Botanicae Horti Agrobotanici Cluj-Napoca. Jul-Sep2024, Vol. 52 Issue 3, p1-23. 23p.