Invasive liver abscess syndrome with central nervous system involvement caused by hypermucoviscous Klebsiella pneumoniae: positive string test.

Autor: de Oliveira Franco Á; Department of Neurology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Uberti Dos Santos V; Infectious Diseases Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., von Ameln Lovison O; LABRESIS-Laboratório de Pesquisa em Resistência Bacteriana, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil., Zavascki AP; Infectious Diseases Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; LABRESIS-Laboratório de Pesquisa em Resistência Bacteriana, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Barth AL; LABRESIS-Laboratório de Pesquisa em Resistência Bacteriana, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Morales Saute JA; Department of Neurology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil., Muxfeldt Bianchin M; Department of Neurology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Programa de Pós-Graduação em Ciências Médicas, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: mbianchin@hcpa.edu.br.

Publikováno v: Lancet (London, England) [Lancet] 2024 May 18; Vol. 403 (10440), pp. 2257-2258.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.

Autor: Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Aaltonen MJ; Montreal Neurological Institute and.; Department of Human Genetics, McGill University, Montreal, Canada., Zidell A; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA., Pedro HF; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA.; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, New Jersey, USA., Morales Saute JA; Medical Genetics Division and Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, and Internal Medicine Department, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Mathew S; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA., Shoubridge EA; Montreal Neurological Institute and.; Department of Human Genetics, McGill University, Montreal, Canada., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2022 Sep 15; Vol. 132 (18). Date of Electronic Publication: 2022 Sep 15.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Autor: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Donis KC; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sousa SB; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Hunter JV; Texas Children's Hospital, Houston, TX, USA.; Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, TX, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Emrick LT; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Lossos A; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel., Fellig Y; Department of Pathology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel., Prus E; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel., Kalish Y; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel., Meiner V; Department of Genetics, Hadassah Medical Center and Hebrew University, Jerusalem, Israel., Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Muirhead K; Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA, USA., Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, Center of Excellence of Human Genetics, National Research Centre, Cairo, Dokki, Egypt., Bouman A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Skidmore DL; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Silva TO; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Postgraduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Karimiani EG; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK., Jamshidi Y; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK., Jaddoa AG; Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, Skövde, Sweden., Jin SC; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Abbaszadegan MR; Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Ebrahimzadeh-Vesal R; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Alavi S; Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Bahreini A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Zarean E; Department of Perinatology, Isfahan University of Medical Sciences, Isfahan, Iran., Salehi MM; Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran., Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia., Zifarelli G; Centogene GmbH, Rostock, Germany., Bauer P; Centogene GmbH, Rostock, Germany., Robson SC; Center for Inflammation Research, Transplantation, Departments of Medicine and Anesthesia, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Travaglini L; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy.; Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesù Children's Hospital, Scientific Institute for Research and Health Care, Rome, Italy., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada., Morales Saute JA; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.; Department of Internal Medicine, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Neurology Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: Annals of neurology [Ann Neurol] 2022 Aug; Vol. 92 (2), pp. 304-321. Date of Electronic Publication: 2022 May 28.

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.

Autor: Hoshino K; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Sweadner KJ; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kawarai T; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Saute JA; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Freitas J; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Damásio J; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Donis KC; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kimura K; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Fukuda H; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Hayashi M; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Higuchi T; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Ikeda Y; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Ozelius LJ; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown., Kaji R; Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown.

Publikováno v: Neurology. Genetics [Neurol Genet] 2021 Mar 15; Vol. 7 (2), pp. e562. Date of Electronic Publication: 2021 Mar 15 (Print Publication: 2021).

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Autor: Winckler PB; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., da Silva AMS; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Coimbra-Neto AR; Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Graduate Program in Medical Physiopathology, UNICAMP, Campinas, Brazil., Carvalho E; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., Cavalcanti EBU; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., Sobreira CFR; Universidade de São Paulo, Ribeirão Preto Medical School, Department of Neurosciences, Ribeirão Preto, Brazil., Marrone CD; Physiatry Division, Hospital São Lucas da Pontifícia Universidade Católica, Porto Alegre, Brazil.; Clinica Marrone, Porto Alegre, Brazil., Machado-Costa MC; Escola Bahiana de Medicina e Saúde Pública, Salvador, Brazil., Carvalho AAS; Centro Universitário Saúde ABC, Santo André, Brazil., Feio RHF; Hospital Universitário Bettina Ferro de Souza, Universidade Federal do Pará (UFPA), Belém, Brazil., Rodrigues CL; Neurology Division, Hospital Geral de Fortaleza, Fortaleza, Brazil., Gonçalves MVM; Universidade da Região de Joinville, Joinville, Brazil., Tenório RB; Medical Genetics Division, HCPA, Porto Alegre, Brazil., Mendonça RH; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Cotta A; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., Paim JFO; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., Costa E Silva C; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., de Aquino Cruz C; Universidade de São Paulo, Ribeirão Preto Medical School, Department of Neurosciences, Ribeirão Preto, Brazil., Bená MI; Universidade de São Paulo, Ribeirão Preto Medical School, Department of Neurosciences, Ribeirão Preto, Brazil., Betancur DFA; Physiatry Division, Hospital São Lucas da Pontifícia Universidade Católica, Porto Alegre, Brazil., El Husny AS; Hospital Universitário Bettina Ferro de Souza, Universidade Federal do Pará (UFPA), Belém, Brazil.; Centro Universitário do Estado do Pará, Belém, Brazil., de Souza ICN; Hospital Universitário Bettina Ferro de Souza, Universidade Federal do Pará (UFPA), Belém, Brazil., Duarte RCB; Hospital Ophir Loyola, Belém, Brazil.; Department of Neurology, UFPA, Belém, Brazil., Reed UC; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Chaves MLF; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.; Department of Internal Medicine, UFRGS, Porto Alegre, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., França MC Jr; Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Graduate Program in Medical Physiopathology, UNICAMP, Campinas, Brazil., Saute JA; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.; Medical Genetics Division, HCPA, Porto Alegre, Brazil.; Department of Internal Medicine, UFRGS, Porto Alegre, Brazil.

Publikováno v: Clinical genetics [Clin Genet] 2019 Oct; Vol. 96 (4), pp. 341-353. Date of Electronic Publication: 2019 Jul 15.