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Wyświetlanie 1-10 z 8786
Tytuł:
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Autorzy:
Luo H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Gustavsson EK; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Macpherson H; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London, UK.
Dominik N; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Zhelcheska K; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Montgomery K; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Anderson C; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Yau WY; The Perron Institute for Neurological and Translational Science, Perth, Australia.
Efthymiou S; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Turner C; The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
DeTure M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Josephs KA; Neurodegenerative Research Group, Mayo Clinic, Rochester, MN, USA.
Revesz T; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK.
Lashley T; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK.
Halliday G; Neuroscience Research Australia, Sydney, Australia.; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.; Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
Rowe DB; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
McCann E; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
Blair I; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
Lees AJ; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, Wakefield Street, London, UK.
Tienari PJ; Department of Neurology, Helsinki University Hospital, Helsinki, Finland.; Translational Immunology Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, 00290, Helsinki, Finland.; Neuroscience CenterHiLife, University of Helsinki, 00290, Helsinki, Finland.; HUSlab, Helsinki University Hospital, 00290, Helsinki, Finland.
Molina-Porcel L; Alzheimer's Disease and Other Cognitive Disorders Unit. Neurology Service, Hospital ClínicFundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi I Sunyer (FRCB-IDIBAPS), University of Barcelona, Barcelona, Spain.; Neurological Tissue Bank of the Hospital Clinic-IFRCB-IDIBAPS-Biobank, Barcelona, Spain.
Kovacs GG; Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Canada.
Gelpi E; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
Hardy J; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, Wakefield Street, London, UK.; Dementia Research Institute at UCL, Queen Square Institute of Neurology, UCL, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.
Haltia MJ; Department of Pathology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK.
Jaunmuktane Z; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK.
Ryten M; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Houlden H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Chen Z; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK. .; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK. .; Department of Clinical and Movement Neuroscience, Queen Square Institute of Neurology, University College London, Queen Square House, London, WC1N 3BG, UK. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Jan 02; Vol. 12 (1), pp. 2. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Letter
MeSH Terms:
Intranuclear Inclusion Bodies*/metabolism
Neurodegenerative Diseases*/metabolism
Humans
SCR Disease Name:
Neuronal intranuclear inclusion disease
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
Autorzy:
Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Renaud M; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
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Źródło:
Clinical and translational medicine [Clin Transl Med] 2024 Jan; Vol. 14 (1), pp. e1504.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Spinocerebellar Ataxias*/diagnosis
Spinocerebellar Ataxias*/drug therapy
Spinocerebellar Ataxias*/genetics
Adult ; Humans ; Ataxia/complications ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Autorzy:
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany.
Lau T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Aldeen HS; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.
Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.
Saad AK; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Zifarelli G; Centogene GmbH, Rostock, Germany.
Gotkhindikar A; Bioinformatics Centre, S. P. Pune University, Pune, India.
Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA.
Liao M; GeneDx, Gaithersburg, MD, 20877, USA.
Cork EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.
Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany.
Neira J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Knopp C; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.
Kurth I; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Smith R; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Abdalla A; Department of Pediatric Endocrinology, Gaafar Ibn Auf Children's Tertiary Hospital, Khartoum, Sudan.
Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Joshi M; Bioinformatics Centre, S. P. Pune University, Pune, India.
Chung WK; Department of Pediatrics, Boston Children's Hospitaland, Harvard Medical School , Boston, MA, USA.
Moreno-De-Luca A; Department of Diagnostic Radiology, Kingston Health Sciences Centre, Queen's University, Kingston, ON, Canada.
Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK. .
Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA. .
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Źródło:
Genome medicine [Genome Med] 2023 Nov 29; Vol. 15 (1), pp. 102. Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:
Journal Article
MeSH Terms:
Proteins*/genetics
Zebrafish*/genetics
Animals ; Humans ; Gene Frequency ; Ketoglutarate Dehydrogenase Complex/genetics ; Ketoglutarate Dehydrogenase Complex/metabolism ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Autorzy:
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Vishnu VY; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Perrone B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Facchini S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
Ravaglia S; IRCCS Mondino Foundation, 27100 Pavia, Italy.
Wilson L; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Mishra R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Reyaz A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Ahmad T; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Bhatia R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Srivastava MP; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; IRCCS Mondino Foundation, 27100 Pavia, Italy.
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Hanna MG; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Bugiardini E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
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Źródło:
Biomolecules [Biomolecules] 2023 Oct 24; Vol. 13 (11). Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophy, Facioscapulohumeral*/diagnosis
Muscular Dystrophy, Facioscapulohumeral*/genetics
Adult ; Humans ; Electrophoresis, Gel, Pulsed-Field ; Chromosome Mapping ; India
SCR Disease Name:
Facioscapulohumeral muscular dystrophy 1a
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Autorzy:
Facchini S; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Manini A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.
Efthymiou S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Currò R; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Rugginini B; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
Quartesan I; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Perrone B; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Kutty SK; Department of Internal Medicine, Kulliyah of Medicine, International Islamic University Malaysia (IIUM), Pahang 53100, Malaysia.
Galassi Deforie V; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Schnekenberg RP; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Abati E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Pichiecchio A; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Valente EM; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Tassorelli C; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Reilly MM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Houlden H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Bugiardini E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Cortese A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
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Źródło:
Biomolecules [Biomolecules] 2023 Oct 19; Vol. 13 (10). Date of Electronic Publication: 2023 Oct 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cerebellar Ataxia*/complications
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Peripheral Nervous System Diseases*
Vestibular Diseases*
Bilateral Vestibulopathy*/complications
Bilateral Vestibulopathy*/diagnosis
Humans ; Syndrome ; Chromosome Mapping
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Autorzy:
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Novis LE; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Koniari C; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Velonakis G; 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Vasconcellos LF; Institute of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Raskin S; Genetika Laboratoty, Curitiba, Paraná, Brazil.
Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Arun YB; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Kinhal UV; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Teive HAG; Neurological Diseases Group, Postgraduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. Date of Electronic Publication: 2023 Aug 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cerebellar Ataxia*/diagnostic imaging
Cerebellar Ataxia*/genetics
Spinocerebellar Degenerations*/genetics
Spinocerebellar Ataxias*/genetics
Adolescent ; Humans ; Child ; Peroxiredoxin III ; Alleles
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-10 z 8786

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