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Wyszukujesz frazę ""Cerebellar Ataxia"" wg kryterium: Temat


Tytuł:
Etiologies and clinical characteristics of acute ataxia in a single national children's medical center.
Autorzy:
Zhang M; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Pan G; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Zhou S; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Shen J; Department of Radiology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Li W; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Zhou Y; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Yu L; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China.
Zhang L; Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, 399# Wan Yuan Road, 201102 Shanghai, China. Electronic address: .
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Źródło:
Brain & development [Brain Dev] 2024 Feb; Vol. 46 (2), pp. 103-107. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/epidemiology
Cerebellar Ataxia*/etiology
Male ; Female ; Child ; Humans ; Retrospective Studies ; Ataxia/epidemiology ; Ataxia/etiology ; Hospitals ; Magnetic Resonance Imaging/adverse effects ; Acute Disease
Czasopismo naukowe
Tytuł:
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Autorzy:
Novis LE; Pós-graduação em Medicina Interna e Ciências da Saúde, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, PR, Brazil; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: .
Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.
Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Departments of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada.
Della Coleta MV; Departamento de Neurologia, Universidade do Estado do Amazonas, Manaus, Brazil.
Raskin S; Laboratório Genetika, Curitiba, PR, Brazil.
Spitz M; Departamento de Especialidades Médicas, Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, RJ, Brazil.
Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.
Teive HA; Pós-graduação em Medicina Interna e Ciências da Saúde, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, PR, Brazil.
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Źródło:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Feb; Vol. 119, pp. 105961. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Spinocerebellar Degenerations*/complications
Humans ; Brazil ; Ataxia/genetics ; Phenotype ; Mutation/genetics ; Kinesins/genetics
Czasopismo naukowe
Tytuł:
Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity.
Autorzy:
Khatib L; French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France.
Do LD; French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France.; MeLiS-UCBL-CNRS UMR 5284-INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France.
Benaiteau M; French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France.
Villagrán-García M; French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France.; MeLiS-UCBL-CNRS UMR 5284-INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France.
Scharf M; Institute of Experimental Immunology, affiliated to EURIMMUN Medizinische Labordiagnostika AG, Lübeck, Germany.
Meyer P; Pediatric Neurology Department, CHU de Montpellier, Montpellier, France.; Phymedexp, CNRS, INSERM, Université de Montpellier, Montpellier, France.
Haidar LA; Pediatric Neurology Department, CHU de Montpellier, Montpellier, France.
Demeret S; Neurology departement, CHU Pitie Salpetrière, Paris, France.
Honnorat J; French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France. .; MeLiS-UCBL-CNRS UMR 5284-INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France. .
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Źródło:
Cerebellum (London, England) [Cerebellum] 2024 Feb; Vol. 23 (1), pp. 260-266. Date of Electronic Publication: 2023 Jan 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnostic imaging
Cerebellar Ataxia*/drug therapy
Male ; Female ; Humans ; Adult ; Child ; Leukocytosis ; Retrospective Studies ; Autoantibodies/cerebrospinal fluid ; Receptors, Glutamate
Czasopismo naukowe
Tytuł:
Autoantibodies against eukaryotic translation elongation factor 1 delta in two patients with autoimmune cerebellar ataxia.
Autorzy:
Guo L; CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China.; Department of Psychology, University of Chinese Academy of Sciences, Beijing, China.
Ren H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Fan S; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Chao X; CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China.; Department of Psychology, University of Chinese Academy of Sciences, Beijing, China.
Liu M; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Guan H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Wang J; CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China.; Department of Psychology, University of Chinese Academy of Sciences, Beijing, China.
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Źródło:
Frontiers in immunology [Front Immunol] 2024 Jan 25; Vol. 14, pp. 1289175. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2023).
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Autoantibodies*
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/metabolism
Cerebellar Ataxia*/pathology
Female ; Humans ; Adult ; Middle Aged ; Peptide Elongation Factor 1 ; Biomarkers ; Immunotherapy
Czasopismo naukowe
Tytuł:
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Autorzy:
Méreaux JL; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Davoine CS; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.
Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Coutelier M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Monin ML; Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000, Bordeaux, France.
Anheim M; Department of Neurology, Strasbourg University Hospital, 67098, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, 67400, Illkirch-Graffenstaden, France.
Le Ber I; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Thobois S; Department of Neurology C, Expert Parkinson Centre NS-Park/F-CRIN, Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital, 69677, Bron, France; Marc Jeannerod Cognitive Neuroscience Institute, CNRS, UMR 5229, Bron, France; Faculté de Médecine Et de Maïeutique Lyon Sud Charles Mérieux, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France.
Gobert F; Neuro-Intensive Care Unit, Hospices Civils de Lyon, Neurological Hospital Pierre-Wertheimer, Lyon, France; University Lyon I, Villeurbanne, France.
Guillot-Noël L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Forlani S; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Jornea L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Heinzmann A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Sangare A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France.
Gaymard B; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France.
Guyant-Maréchal L; Neurophysiology Department, Rouen University Hospital, Rouen, France; Medical Genetics Department, Rouen University Hospital, Rouen, France.
Charles P; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Marelli C; MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095, Montpellier, France.
Honnorat J; Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS Institute UMR CNRS 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France.
Degos B; Neurology Department, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, Réseau NS-PARK/FCRIN, Bobigny, France.
Tison F; Institut des Maladies Neurodégénératives-Clinique (IMNc), University Hospital Bordeaux, Bordeaux, France; Institut des Maladies Neurodégénératives, CNRS, UMR 5293, Bordeaux University, Bordeaux, France.
Sangla S; Neurology Department, Hôpital Fondation Adolphe de Rothschild, Paris, France.
Simonetta-Moreau M; Department of Neurology, University Hospital of Toulouse, 31300, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), Inserm, UPS, Université de Toulouse, 31024, Toulouse, France; Clinical Investigation Center (CIC 1436), Toulouse University Hospital, INSERM, 31059, Toulouse, France.
Salachas F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Assistance Publique Hôpitaux de Paris (APHP), Centre de Référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, Paris, France.
Tchikviladzé M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Castelnovo G; Department of Neurology, Nîmes University Hospital, Hopital Caremeau, Nîmes, France.
Mochel F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany.
Castrioto A; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Neurology Department, 38000, Grenoble, France.
Fenu S; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Méneret A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.
Bourdain F; Service de Neurologie, Centre Hospitalier de la Côte Basque, Bayonne, France.
Wandzel M; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France.
Roth V; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France.
Bonnet C; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France.
Riant F; Service de Génétique Moléculaire Neurovasculaire, AP-HP, Saint Louis Hospital, Paris, France.
Stevanin G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Bordeaux University (Université de Bordeaux), Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287, EPHE, 33000, Bordeaux, France.
Noël S; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Fauret-Amsellem AL; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia.
Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.
Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Renaud M; Service de Génétique Clinique et de Neurologie, Hôpital Brabois, Nancy, France; INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine, Nancy, France.
Brice A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: .
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Źródło:
EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104931. Date of Electronic Publication: 2023 Dec 27.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Friedreich Ataxia*/genetics
Child ; Humans ; Ataxia/diagnosis ; Ataxia/genetics ; Australia ; Canada ; Cross-Sectional Studies
Czasopismo naukowe
Tytuł:
Prognostic and relapsing factors of primary autoimmune cerebellar ataxia: a prospective cohort study.
Autorzy:
Liu M; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Ren H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Wang L; Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Fan S; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Bai L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Guan H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. .
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Źródło:
Journal of neurology [J Neurol] 2024 Mar; Vol. 271 (3), pp. 1072-1079. Date of Electronic Publication: 2023 Dec 23.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Radiculopathy*
Peripheral Nervous System Diseases*
Humans ; Male ; Young Adult ; Adult ; Middle Aged ; Female ; Prognosis ; Prospective Studies ; Autoantibodies/cerebrospinal fluid ; Recurrence
Czasopismo naukowe
Tytuł:
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).
Autorzy:
Palones E; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain. .; Department of Respiratory Medicine, Sant Pau Biomedical Research Institute (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. .
Curto E; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Respiratory Medicine, Sant Pau Biomedical Research Institute (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Plaza V; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Respiratory Medicine, Sant Pau Biomedical Research Institute (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Gonzalez-Quereda L; Genetics Department, Institute of Biomedical Research Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
Segarra-Casas A; Genetics Department, Institute of Biomedical Research Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
Querol L; Neuromuscular Disease Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Bertoletti F; Department of Digestive Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Rodriguez MJ; Genetics Department, Institute of Biomedical Research Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Gallano P; Genetics Department, Institute of Biomedical Research Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Networked Biomedical Research Centre for Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Crespo-Lessmann A; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Respiratory Medicine, Sant Pau Biomedical Research Institute (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
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Źródło:
Journal of neurology [J Neurol] 2024 Mar; Vol. 271 (3), pp. 1204-1212. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Bilateral Vestibulopathy*/complications
Bilateral Vestibulopathy*/diagnosis
Peripheral Nervous System Diseases*
Vestibular Diseases*/complications
Vestibular Diseases*/diagnosis
Humans ; Quality of Life ; Chronic Cough ; Cough/etiology
Czasopismo naukowe
Tytuł:
First case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with confirmed DMNT1 gene mutation in Spain. Review of the DMNT1 mutation syndromes.
Autorzy:
de Miguel-Sanchez CJ; Neurology Department, Gregorio Marañón General University Hospital, Madrid, Spain. .
Gomez-Roldós A; Neurology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
Leal-Hidalgo R; Neurology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
Lafuente-Gómez G; Neurology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
Estrada-Huesa D; Neurophysiology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
Bravo-Quelle N; Neurophysiology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
González-Sánchez M; Neurology Department, Gregorio Marañón General University Hospital, Madrid, Spain.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Feb; Vol. 45 (2), pp. 791-793. Date of Electronic Publication: 2023 Oct 13.
Typ publikacji:
Letter
MeSH Terms:
Cerebellar Ataxia*/complications
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Narcolepsy*/complications
Narcolepsy*/diagnosis
Narcolepsy*/genetics
Deafness*/genetics
Humans ; Spain ; Mutation/genetics ; Genes, Dominant ; Pedigree
Opinia redakcyjna
Tytuł:
SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
Autorzy:
Marsili L; James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA. .
Davis JL; Valley Neuroscience Institute, University of Washington-Valley Medical Center, Renton, WA, USA.
Espay AJ; James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA.
Gilthorpe J; Department of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Williams C; Department of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Kauffman MA; Consultorio Y Laboratorio de Neurogenética, Centro Universitario de Neurología José María Ramos Mejía, Buenos Aires, Argentina.
Porollo A; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
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Źródło:
Cerebellum (London, England) [Cerebellum] 2024 Feb; Vol. 23 (1), pp. 205-209. Date of Electronic Publication: 2023 Feb 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Cerebellar Ataxia*/genetics
Motor Neuron Disease*/genetics
Humans ; Ceruloplasmin/genetics ; Ceruloplasmin/metabolism ; Mutation/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase/metabolism ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase-1/metabolism
Czasopismo naukowe
Tytuł:
Efficacy and Safety of Repetitive Transcranial Magnetic Stimulation in Cerebellar Ataxia: a Systematic Review and Meta-analysis.
Autorzy:
Qiu YT; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China.
Chen Y; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China.
Tan HX; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China.
Su W; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China.
Guo QF; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China.
Gao Q; Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Sichuan Province, Chengdu, China. gaoqiang_.; Key Laboratory of Rehabilitation Medicine of Sichuan Province, Chengdu, Sichuan Province, China. gaoqiang_.
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Źródło:
Cerebellum (London, England) [Cerebellum] 2024 Feb; Vol. 23 (1), pp. 243-254. Date of Electronic Publication: 2023 Jan 06.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
Cerebellar Ataxia*/therapy
Mental Disorders*
Humans ; Transcranial Magnetic Stimulation/adverse effects ; Cerebellum ; Ataxia
Czasopismo naukowe
Tytuł:
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.
Autorzy:
Tyagi N; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Uppili B; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Sharma P; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Parveen S; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Saifi S; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Jain A; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Sonakar A; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences (AIIMS), 110608, New Delhi, India.
Ahmed I; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Sahni S; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences (AIIMS), 110608, New Delhi, India.
Shamim U; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Anand A; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Suroliya V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences (AIIMS), 110608, New Delhi, India.
Asokachandran V; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Srivastava A; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences (AIIMS), 110608, New Delhi, India.
Sivasubbu S; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Scaria V; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India.
Faruq M; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, 110007, India. .; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India. .
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Źródło:
Neurogenetics [Neurogenetics] 2024 Jan; Vol. 25 (1), pp. 13-25. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/genetics
Cerebellar Ataxia*/diagnosis
Peripheral Nervous System Diseases*
Vestibular Diseases*
Humans ; Ataxia
Czasopismo naukowe
Tytuł:
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Autorzy:
Gorcenco S; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden. .
Kafantari E; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.
Wallenius J; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.
Karremo C; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.
Alinder E; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.
Dobloug S; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Faculty of Medicine, Lund University, Lund, Sweden.
Landqvist Waldö M; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Faculty of Medicine, Lund University, Lund, Sweden.
Englund E; Pathology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.
Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
Wictorin K; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Faculty of Medicine, Lund University, Lund, Sweden.
Karrman K; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
Puschmann A; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden.; SciLifeLab National Research Infrastructure, Solna, Sweden.
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Źródło:
Journal of neurology [J Neurol] 2024 Jan; Vol. 271 (1), pp. 526-542. Date of Electronic Publication: 2023 Oct 03.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Spinocerebellar Degenerations*
Humans ; Sweden ; Ataxia/diagnosis ; Ataxia/genetics ; Phenotype
Czasopismo naukowe
Tytuł:
Pseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
Autorzy:
Abreu VS; Neuroradiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Silva JS; Neuroradiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Igreja L; Neuroradiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Malaquias MJ; Neurology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Pinto CM; Neuroradiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 103-106. Date of Electronic Publication: 2023 Sep 25.
Typ publikacji:
Case Reports
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Bilateral Vestibulopathy*/diagnosis
Bilateral Vestibulopathy*/genetics
Vestibular Diseases*
Humans ; Ataxia ; Syndrome ; Magnetic Resonance Imaging/methods
Raport
Tytuł:
A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution.
Autorzy:
Kudo A; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N-15 W-7, Kita-Ku, Sapporo, Japan.
Yaguchi H; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N-15 W-7, Kita-Ku, Sapporo, Japan. .
Tanaka K; Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata, Japan.
Kimura A; Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan.
Yabe I; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N-15 W-7, Kita-Ku, Sapporo, Japan. .
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Źródło:
Journal of neurology [J Neurol] 2024 Jan; Vol. 271 (1), pp. 553-563. Date of Electronic Publication: 2023 Aug 23.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/diagnosis
Paraneoplastic Cerebellar Degeneration*/diagnosis
Multiple System Atrophy*/diagnosis
Humans ; Retrospective Studies ; Leukocytosis ; Ataxia ; Atrophy
Czasopismo naukowe
Tytuł:
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.
Autorzy:
Katragadda P; Department of Neurology National Institute of Mental Health and Neurosciences, Bengaluru, India.
Holla VV; Department of Neurology National Institute of Mental Health and Neurosciences, Bengaluru, India.
Kamble N; Department of Neurology National Institute of Mental Health and Neurosciences, Bengaluru, India.
Saini J; Department of Neuroimaging & Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Yadav R; Department of Neurology National Institute of Mental Health and Neurosciences, Bengaluru, India.
Pal PK; Department of Neurology National Institute of Mental Health and Neurosciences, Bengaluru, India.
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Źródło:
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2024 Mar 06; Vol. 14, pp. 10. Date of Electronic Publication: 2024 Mar 06 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Xanthomatosis, Cerebrotendinous*/diagnosis
Xanthomatosis*
Cerebellar Ataxia*
Cataract*
Parkinsonian Disorders*
Male ; Humans ; Young Adult ; Adult ; Middle Aged ; Aged ; Cholestanetriol 26-Monooxygenase/genetics ; Cholestanetriol 26-Monooxygenase/therapeutic use ; Retrospective Studies ; Rare Diseases
Czasopismo naukowe
Tytuł:
Progressive ataxia and palatal tremor.
Autorzy:
Zhang T; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
Liem B; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
Anderson NE; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
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Źródło:
Internal medicine journal [Intern Med J] 2024 Mar; Vol. 54 (3), pp. 521-522.
Typ publikacji:
Letter
MeSH Terms:
Tremor*
Cerebellar Ataxia*
Humans ; Ataxia ; Magnetic Resonance Imaging
Opinia redakcyjna
Tytuł:
Analysis of static plantar pressure data with capsule networks: Diagnosing ataxia in MS patients with a deep learning-based approach.
Autorzy:
Danacı Ç; Fırat University, Institute of Science, Department of Software Engineering, Elazig, Turkey; Sivas Republic University, Faculty of Technology, Department of Software Engineering, Sivas, Turkey. Electronic address: .
Baydoğan MP; Fırat University, Vocational School of Technical Sciences, Department of Computer Programming, Elazig, Turkey.
Tuncer SA; Fırat University, Faculty of Engineering, Department of Software Engineering, Elazig, Turkey.
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Źródło:
Multiple sclerosis and related disorders [Mult Scler Relat Disord] 2024 Mar; Vol. 83, pp. 105465. Date of Electronic Publication: 2024 Jan 21.
Typ publikacji:
Journal Article
MeSH Terms:
Deep Learning*
Multiple Sclerosis*/complications
Multiple Sclerosis*/diagnosis
Cerebellar Ataxia*
Humans ; Ataxia/diagnosis ; Ataxia/etiology ; Physical Therapy Modalities
Czasopismo naukowe
Tytuł:
Abnormal cortical excitability in patients with spinocerebellar ataxia type 12.
Autorzy:
Bhattacharya A; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India.
Stezin A; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India.
Kamble N; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India.
Bhardwaj S; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India.
Yadav R; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India.
Pal PK; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, Karnataka, India. Electronic address: .
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Źródło:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Mar; Vol. 120, pp. 106002. Date of Electronic Publication: 2024 Jan 09.
Typ publikacji:
Journal Article
MeSH Terms:
Spinocerebellar Ataxias*
Cerebellar Ataxia*
Cortical Excitability*
CME-Carbodiimide/*analogs & derivatives
Female ; Humans ; Middle Aged ; Aged ; Evoked Potentials, Motor/physiology ; India ; Tremor/etiology ; Transcranial Magnetic Stimulation
SCR Disease Name:
Spinocerebellar Ataxia 12
Czasopismo naukowe
Tytuł:
Spontaneous and optogenetically induced cortical spreading depolarization in familial hemiplegic migraine type 1 mutant mice.
Autorzy:
Loonen ICM; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.
Voskuyl RA; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.
Schenke M; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.
van Heiningen SH; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.
van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands; Department of Neurology, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.
Tolner EA; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands; Department of Neurology, Leiden University Medical Center, Leiden 2333 RC, the Netherlands. Electronic address: .
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Źródło:
Neurobiology of disease [Neurobiol Dis] 2024 Mar; Vol. 192, pp. 106405. Date of Electronic Publication: 2024 Jan 09.
Typ publikacji:
Journal Article
MeSH Terms:
Migraine with Aura*/genetics
Cortical Spreading Depression*/physiology
Migraine Disorders*/genetics
Epilepsy*
Cerebellar Ataxia*
Humans ; Mice ; Animals ; Mice, Transgenic ; Evoked Potentials
SCR Disease Name:
Hemiplegic migraine, familial type 1
Czasopismo naukowe
Tytuł:
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Autorzy:
Wada T; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Okubo M; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tada M; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ueda N; Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
Suzuki H; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tominaga W; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koike H; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Komiya H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kubota S; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hashiguchi S; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakamura H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takahashi K; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kunii M; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tanaka K; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyaji Y; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Higashiyama Y; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Fujii S; Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Yokohama, Japan.
Takahashi H; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeuchi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
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Źródło:
Annals of neurology [Ann Neurol] 2024 Mar; Vol. 95 (3), pp. 607-613. Date of Electronic Publication: 2023 Dec 27.
Typ publikacji:
Journal Article
MeSH Terms:
Bilateral Vestibulopathy*
Cerebellar Ataxia*/genetics
Peripheral Nervous System Diseases*
Humans ; In Situ Hybridization, Fluorescence ; RNA ; Syndrome
Czasopismo naukowe

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