المؤلفون: Schols, L, Rattay, TW, Martus, P, Meisner, C, Baets, J, Fischer, I, Jagle, C, Fraidakis, MJ, Martinuzzi, A, Saute, JA, Scarlato, M, Antenora, A, Stendel, C, Hoflinger, P, Lourenco, CM, Abreu, L, Smets, K, Paucar, M, Deconinck, T, Bis, DM, Wiethoff, S, Bauer, P, Arnoldi, A, Marques, W, Jardim, LB, Hauser, S, Criscuolo, C, Filla, A, Zuchner, S, Bassi, MT, Klopstock, T, De Jonghe, P, Bjorkhem, I, Schule, R

المصدر: Brain : a journal of neurology. 140(12):3112-3127

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137155329

المؤلفون: Aartsma-Rus, A, Hegde, M, Ben-Omran, T, Buccella, F, Ferlini, A, Gallano, P, Howell, RR, Leturcq, F, Martin, AS, Potulska-Chromik, A, Saute, JA, Schmidt, WM, Sejersen, T, Tuffery-Giraud, S, Uyguner, ZO, Witcomb, LA, Yau, S, Nelson, SF

المصدر: The Journal of pediatrics. 204:305

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139866505

المؤلفون: 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.

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

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

مواضيع طبية MeSH: Klebsiella pneumoniae*/isolation & purification , Klebsiella Infections*/diagnosis , Klebsiella Infections*/drug therapy , Klebsiella Infections*/complications , Liver Abscess*/microbiology , Liver Abscess*/diagnostic imaging, Humans ; Male ; Magnetic Resonance Imaging ; Middle Aged ; Syndrome

المؤلفون: Erdinc D; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Rodríguez-Luis A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fassad MR; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Mackenzie S; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Watson CM; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Xie X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Menger KE; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Craig K; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hopton S; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkous G; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Poulton J; Nuffield Department of Women's & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK., Garcia-Moreno H; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., Giunti P; Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Queen Square Institute of Neurology, London, UK., de Moura Aschoff CA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Morales Saute JA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Kirby AJ; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wolfe L; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Novacic D; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel., Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., McFarland R; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Schaefer AM; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden., Taylor RW; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Nicholls TJ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: EMBO molecular medicine [EMBO Mol Med] 2023 May 08; Vol. 15 (5), pp. e16775. Date of Electronic Publication: 2023 Apr 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases*/genetics , Muscular Diseases*, Humans ; Mitochondria/genetics ; DNA, Mitochondrial/genetics ; Syndrome ; Genomic Instability

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Hereditary Sensory and Autonomic Neuropathies*/genetics , Neurodegenerative Diseases*, Membrane Proteins/*metabolism, Humans ; Serine/chemistry ; Serine C-Palmitoyltransferase/chemistry ; Serine C-Palmitoyltransferase/genetics ; Sphingolipids/genetics ; Sphingolipids/metabolism

المؤلفون: Dos Santos MAR; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Brighente SF; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Massignan A; Radiology Departament, Hospital Moinhos de Vento, Porto Alegre, Brazil., Tenório RB; Hospital Pequeno Príncipe, Curitiba, Brazil; Graduate Program in Medicine: Internal Medicine, Universidade Federal do Paraná, Curitiba, Brazil., Makariewicz LL; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Moreira AL; Department of Neurosurgery (Peripheral Nerve Surgery Unit), University of São Paulo - USP, São Paulo, Brazil., Saute JA; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address: jsaute@hcpa.edu.br.

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Sep; Vol. 32 (9), pp. 763-768. Date of Electronic Publication: 2022 Jul 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Fasciculation*/diagnosis , Muscular Atrophy, Spinal*/diagnosis, Adolescent ; Adult ; Cross-Sectional Studies ; Humans ; Muscle Weakness ; Muscles ; Muscular Atrophy ; Reproducibility of Results

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Apyrase*/genetics , Intellectual Disability*/genetics , Spastic Paraplegia, Hereditary*/genetics , White Matter*/diagnostic imaging , White Matter*/pathology, Dysarthria ; Humans ; Mutation/genetics ; Paraplegia/genetics ; Pedigree ; Phenotype

المؤلفون: Félix TM; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil. tfelix@hcpa.edu.br., de Oliveira BM; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Artifon M; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil., Carvalho I; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Bernardi FA; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Schwartz IVD; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Saute JA; Medical Genetics Service, Porto Alegre Clinical Hospital, Ramiro Barcelos St., 2350, Porto Alegre, RS, 90035-903, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre, Brazil., Ferraz VEF; Department of Genetics, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil., Acosta AX; Department of Pediatrics, Federal University of Bahia, Salvador, Brazil., Sorte NB; Department of Pediatrics, Federal University of Bahia, Salvador, Brazil., Alves D; Department of Social Medicine, Ribeirão Preto Faculty of Medicine, University of São Paulo, São Paulo, Brazil.

مؤلفون مشاركون: RARAS Network group

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 24; Vol. 17 (1), pp. 84. Date of Electronic Publication: 2022 Feb 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life* , Rare Diseases*/genetics, Brazil/epidemiology ; Humans ; Infant, Newborn ; Prospective Studies ; Retrospective Studies

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

المؤلفون: Cardoso-Dos-Santos AC; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Oliveira Silva T; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Silveira Faccini A; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Woycinck Kowalski T; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Bertoli-Avella A; CENTOGENE, AG, Rostock, Germany., Morales Saute JA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Internal Medicine Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Schuler-Faccini L; Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., de Oliveira Poswar F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

المصدر: Molecular syndromology [Mol Syndromol] 2020 Feb; Vol. 11 (1), pp. 24-29. Date of Electronic Publication: 2020 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE