전남대학교 중앙도서관

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1 .

학술저널

issue: Neurology. Genetics [Neurol Genet] 2021 Oct 21; Vol. 7 (6), pp. e631. Date of Electronic Publication: 2021 Oct 21 (Print Publication: 2021).
Author: Castle AMR; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Salian S; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Bassan H; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Sofrin-Drucker E; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Cusmai R; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Herman KC; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Heron D; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Keren B; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Johnstone DL; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Mears W; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Morlot S; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Nguyen TTM; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Rock R; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Stolerman E; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Russo J; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Burns WB; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Jones JR; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Serpieri V; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Wallaschek H; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Zanni G; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Dyment DA; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Campeau PM; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
DB Label: Database : MEDLINE

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