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Tytuł :
Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials.
Autorzy :
Choi JH; Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.; Department of Neurology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea.
Shin C; Department of Neurology, Chungnam National University Sejong Hospital, Sejong-si, South Korea.; Department of Neurology, Chungnam National University College of Medicine, Daejeon, South Korea.
Kim HJ; Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea. .
Jeon B; Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.
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Źródło :
Journal of neurology [J Neurol] 2022 Jan; Vol. 269 (1), pp. 62-71. Date of Electronic Publication: 2020 Nov 20.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cerebellar Ataxia*/drug therapy
Friedreich Ataxia*
Ataxia ; Cross-Over Studies ; Humans ; Placebo Effect ; Randomized Controlled Trials as Topic
Czasopismo naukowe
Tytuł :
Autosomal recessive adult onset ataxia.
Autorzy :
Dragašević-Mišković N; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Dr Subotića 6, 11000, Belgrade, Serbia. .
Stanković I; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Dr Subotića 6, 11000, Belgrade, Serbia.
Milovanović A; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Dr Subotića 6, 11000, Belgrade, Serbia.
Kostić VS; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Dr Subotića 6, 11000, Belgrade, Serbia.
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Źródło :
Journal of neurology [J Neurol] 2022 Jan; Vol. 269 (1), pp. 504-533. Date of Electronic Publication: 2021 Sep 09.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebellar Ataxia*/diagnosis
Adult ; Ataxia/diagnosis ; Ataxia/genetics ; Child ; Diagnosis, Differential ; Humans
Czasopismo naukowe
Tytuł :
RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia.
Autorzy :
Gu C; Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin 300070, China; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Wang H; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; The Medical Department of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Shu J; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Pediatric Research Institute, No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Zheng J; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Li D; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; The Medical Department of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin 300134, China.
Cai C; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Pediatric Research Institute, No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Department of Neurosurgery, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin 300134, China. Electronic address: .
Zhang P; Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; The Medical Department of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin 300134, China. Electronic address: .
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Źródło :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2021 Dec; Vol. 523, pp. 6-9. Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Ataxia Telangiectasia*/diagnosis
Ataxia Telangiectasia*/genetics
Spinocerebellar Degenerations*
Ataxia Telangiectasia Mutated Proteins/genetics ; Child ; Child, Preschool ; Female ; Humans ; Mutation ; Sequence Analysis, RNA ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Patient with ataxia telangiectasia undergoing elective staging laparoscopy: A case report and literature review.
Autorzy :
Bashir MN; Department of Anaesthesia, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
Saleem H; Department of Anaesthesia, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
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Źródło :
JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2021 Nov; Vol. 71 (11), pp. 2656-2658.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Ataxia Telangiectasia*
Laparoscopy*
Ataxia Telangiectasia Mutated Proteins/genetics ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Epilepsy and episodic ataxia type 2: family study and review of the literature.
Autorzy :
Verriello L; Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy. .
Pauletto G; Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.
Nilo A; Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.
Lonigro I; Department of Medicine (DAME), University of Udine, Udine, Italy.; Department of Laboratory Medicine, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.
Betto E; Department of Laboratory Medicine, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.
Valente M; Department of Medicine (DAME), University of Udine, Udine, Italy.; Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.
Curcio F; Department of Medicine (DAME), University of Udine, Udine, Italy.; Department of Laboratory Medicine, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.
Gigli GL; Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.; Department of Mathematics, Informatics and Physics (DMIF), University of Udine, Udine, Italy.
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Źródło :
Journal of neurology [J Neurol] 2021 Nov; Vol. 268 (11), pp. 4296-4302. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cerebellar Ataxia*
Epilepsy*/genetics
Nystagmus, Pathologic*
Ataxia/genetics ; Humans
SCR Disease Name :
Episodic Ataxia, Type 2
Czasopismo naukowe
Tytuł :
Applicability of quantitative oculomotor and SARA assessment in children.
Autorzy :
Vogelaar FA; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
Brandsma R; University Medical Center Utrecht, Wilhelmina Children's Hospital, Department of Paediatric Neurology, Utrecht, the Netherlands.
Maurits NM; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
Sival DA; University of Groningen, University Medical Center Groningen, Department of Paediatric Neurology, Beatrix Children's Hospital, Groningen, the Netherlands. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Nov; Vol. 35, pp. 56-60. Date of Electronic Publication: 2021 Sep 25.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebellar Ataxia*
Eye Movements*
Ataxia ; Child ; Humans ; Reproducibility of Results ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
Autorzy :
Tagliapietra M; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Cardellini D; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Ferrarini M; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Testi S; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Ferrari S; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Monaco S; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Cavallaro T; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy.
Fabrizi GM; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, 37134, Verona, VR, Italy. .
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Źródło :
Journal of neurology [J Neurol] 2021 Nov; Vol. 268 (11), pp. 4280-4290. Date of Electronic Publication: 2021 Apr 21.
Typ publikacji :
Journal Article
MeSH Terms :
Bilateral Vestibulopathy*
Cerebellar Ataxia*
Polyneuropathies*/diagnosis
Polyneuropathies*/genetics
Adult ; Ataxia ; Humans ; Replication Protein C
Czasopismo naukowe
Tytuł :
Vestibular function testing in patients with RFC1 mutations.
Autorzy :
Halmágyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown, Sydney, NSW, 2088, Australia. .
Szmulewicz DJ; Balance Disorders and Ataxia Service, Royal Victoria Eye and Ear Hospital, East Melbourne, Melbourne, VIC, 3002, Australia.; The Florey Institute of Neuroscience and Mental Health, Parkville, Melbourne, VIC, 3052, Australia.
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Źródło :
Journal of neurology [J Neurol] 2021 Dec; Vol. 268 (12), pp. 4894-4896. Date of Electronic Publication: 2021 Jul 13.
Typ publikacji :
Letter
MeSH Terms :
Cerebellar Ataxia*
Ataxia ; Humans ; Mutation/genetics
Opinia redakcyjna
Tytuł :
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Autorzy :
Dalmasso B; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy. .; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. .
Pastorino L; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Nathan V; Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Shah NN; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Palmer JM; Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Howlie M; Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Johansson PA; Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Freedman ND; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Carter BD; American Cancer Society, Atlanta, GA, USA.
Beane-Freeman L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Hicks B; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Molven A; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Department of Pathology, Haukeland University Hospital, Bergen, Norway.
Helgadottir H; Department of Oncology Pathology, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm, Sweden.
Sankar A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Tsao H; Wellman Center for Photomedicine, Department of Dermatology, MGH Cancer Center, Massachusetts General Hospital, Boston, MA, USA.
Stratigos AJ; First Department of Dermatology-Venereology, Andreas Sygros Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Helsing P; Department of Dermatology, Oslo University Hospital, Oslo, Norway.
Van Doorn R; Department Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
Gruis NA; Department Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
Visser M; Department Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
Wadt KAW; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
Mann G; Centre for Cancer Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Australia.
Holland EA; Centre for Cancer Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Australia.
Nagore E; Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
Potrony M; Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Puig S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Dermatology Department, Melanoma Unit, HospitalClínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
Menin C; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Peris K; Institute of Dermatology, Catholic University of the Sacred Heart, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Fargnoli MC; Dermatology, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Calista D; Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy.
Soufir N; Dépatement de Génétique Moléculaire, Hôpital Bichat-Claude Bernard, Paris, France.
Harland M; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Bishop T; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Kanetsky PA; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Elder DE; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Andreotti V; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Vanni I; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Bruno W; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Höiom V; Department of Oncology Pathology, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm, Sweden.
Tucker MA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Yang XR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Andresen PA; Department of Pathology, Oslo University Hospital, Oslo, Norway.
Adams DJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Landi MT; Divison of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Hayward NK; Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Goldstein AM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Ghiorzo P; IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.; Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
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Corporate Authors :
GenoMEL
MelaNostrum consortia
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2087-2095. Date of Electronic Publication: 2021 Jul 14.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Ataxia Telangiectasia*
Melanoma*/genetics
Ataxia Telangiectasia Mutated Proteins/genetics ; Australia ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans
Czasopismo naukowe
Tytuł :
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
Autorzy :
Mengel D; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Traschütz A; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Reich S; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Leyva-Gutiérrez A; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Bender F; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Hauser S; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. .; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany. .
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Źródło :
Journal of neurology [J Neurol] 2021 Oct; Vol. 268 (10), pp. 3845-3851. Date of Electronic Publication: 2021 Apr 03.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebellar Ataxia*
Spinocerebellar Ataxias*
Adult ; Ataxia/genetics ; Humans ; Pedigree ; Phenotype ; Ubiquitin-Protein Ligases/genetics
Czasopismo naukowe
Tytuł :
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
Autorzy :
Amirifar P; Department of Medical Genetics, School of Medicine, Tehran University of medical sciences, Tehran, Iran.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Ranjouri MR; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Pashangzadeh S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Lavin M; University of Queensland Centre for Clinical Research (UQCCR), University of Queensland, Brisbane, QLD, Australia.
Yazdani R; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Moeini Shad T; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.; Department of Immunology, Semnan University of Medical Sciences, Semnan, Iran.
Mehrmohamadi M; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.
Salami F; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Delavari S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Moamer S; School of Public Health, Student Research Committee, Hamadan University of Medical Sciences, Hamadan, Iran.
Aghamohammadi A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Akrami SM; Department of Medical Genetics, School of Medicine, Tehran University of medical sciences, Tehran, Iran.
Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.
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Źródło :
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2021 Aug; Vol. 32 (6), pp. 1316-1326. Date of Electronic Publication: 2021 Mar 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Ataxia Telangiectasia*/diagnosis
Ataxia Telangiectasia*/genetics
Ataxia Telangiectasia Mutated Proteins/genetics ; Child ; Child, Preschool ; Humans ; Iran ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Association of SLC22A1 rs622342 and ATM rs11212617 polymorphisms with metformin efficacy in patients with type 2 diabetes.
Autorzy :
Chen P; Department of Endocrinology.; Department of Infection Control.
Cao Y; Department of Neurology, Meizhou People's Hospital, Meizhou, Guangdong Province.
Guo Y; Department of Endocrinology, Central Hospital of Shenzhen Guangming New District, Shenzhen.
Xu Q; Department of Endocrinology, the Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province.
Wang X; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, People's Republic of China.
Zhang L; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, People's Republic of China.
Liu Z; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, People's Republic of China.
Chen D; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, People's Republic of China.
Chen S; Department of Endocrinology, the Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province.
Chen S; Department of Endocrinology, the Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province.
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Źródło :
Pharmacogenetics and genomics [Pharmacogenet Genomics] 2022 Feb 01; Vol. 32 (2), pp. 67-71.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Ataxia Telangiectasia*
Diabetes Mellitus, Type 2*/drug therapy
Diabetes Mellitus, Type 2*/genetics
Metformin*/therapeutic use
Ataxia Telangiectasia Mutated Proteins/genetics ; Blood Glucose ; Glycated Hemoglobin A/metabolism ; Humans ; Hypoglycemic Agents/therapeutic use ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł :
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Autorzy :
Lessard I; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada.
St-Gelais R; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada.
Hébert LJ; Départements de réadaptation et de Radiologie et médecine nucléaire, Faculté de médecine, Université Laval, Quebec, QC, Canada.; Centre interdisciplinaire de recherche en réadaptation et intégration sociale (CIRRIS), Institut de réadaptation en déficience physique de Québec, Quebec, QC, Canada.
Côté I; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.
Mathieu J; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada.; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada.
Brais B; Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Gagnon C; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, site Jonquière, 2230 de l'Hôpital, C.P. 1200, Jonquière, QC, G7X 7X2, Canada. .; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC, Canada. .; Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Université de Sherbrooke, Sherbrooke, QC, Canada. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 14; Vol. 16 (1), pp. 432. Date of Electronic Publication: 2021 Oct 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cerebellar Ataxia*
Spinocerebellar Ataxias*
Adult ; Ataxia ; Humans ; Muscle Spasticity ; Walking ; Young Adult
Czasopismo naukowe
Tytuł :
Development and Validation of a Patient-Reported Outcome Measure of Ataxia.
Autorzy :
Schmahmann JD; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Pierce S; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
MacMore J; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
L'Italien GJ; Global Health Outcomes and Epidemiology, Biohaven Pharmaceuticals, New Haven, Connecticut, USA.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Oct; Vol. 36 (10), pp. 2367-2377. Date of Electronic Publication: 2021 Jun 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cerebellar Ataxia*/diagnosis
Quality of Life*
Activities of Daily Living ; Ataxia/diagnosis ; Humans ; Patient Reported Outcome Measures ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).
Autorzy :
Durmus H; Department of Neurology, Faculty of Medicine, Istanbul University, 34390, Capa, Istanbul, Turkey. .
Mertoğlu E; Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey.
Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ceylaner S; Intergen Genetic Diagnosis and Research Center, Ankara, Turkey.
Kulaksızoğlu IB; Department of Psychiatry, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Hashemolhosseini S; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Uçar EÖ; Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey.
Parman Y; Department of Neurology, Faculty of Medicine, Istanbul University, 34390, Capa, Istanbul, Turkey.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Sep; Vol. 42 (9), pp. 3871-3878. Date of Electronic Publication: 2021 Feb 02.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebellar Ataxia*
Psychotic Disorders*
Adult ; Ataxia/genetics ; Child ; Female ; Glycoside Hydrolases/genetics ; Humans ; Mutation ; Pathogen-Associated Molecular Pattern Molecules ; Young Adult
Czasopismo naukowe
Tytuł :
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Autorzy :
Montaut S; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France. .
Diedhiou N; INSERM, U1258/CNRS, UMR7104, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.; University of Strasbourg, Strasbourg, France.
Fahrer P; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.
Marelli C; Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, Department of Neurology, Montpellier University Hospital, Montpellier, France.; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, University of Montpellier, Montpellier, France.
Lhermitte B; Inserm U1198 MMDN, University of Montpellier, Montpellier, France.
Robelin L; Department of Pathology, Strasbourg University Hospital, Strasbourg, France.; Tumoral Signaling and Therapeutics Targets Team, Laboratory Bioimaging and Pathologies, UMR CNRS 7021, Faculty of Pharmacy, University of Strasbourg, Illkirch, France.
Vincent MC; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.
Corti L; Department of Neurology, Montpellier University Hospital, Montpellier, France.
Taieb G; Department of Neurology, Montpellier University Hospital, Montpellier, France.
Gebus O; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.
Rudolf G; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.; CNRS U 7104-Inserm U1258, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.
Tarabeux J; Laboratoire de Diagnostic Génétique, Strasbourg University Hospital, Strasbourg, France.
Dondaine N; Laboratoire de Diagnostic Génétique, Strasbourg University Hospital, Strasbourg, France.
Canuet M; Department of Pneumology, Strasbourg University Hospital, Strasbourg, France.
Almeras M; Palliative Care Department, Strasbourg University Hospital, Strasbourg, France.
Benkirane M; Laboratoire de Génétique Moléculaire, IURC, Montpellier University Hospital, Montpellier, France.; Equipe Accueil EA7402, University of Montpellier, Montpellier, France.
Larrieu L; Laboratoire de Génétique Moléculaire, IURC, Montpellier University Hospital, Montpellier, France.; Equipe Accueil EA7402, University of Montpellier, Montpellier, France.
Chanson JB; Neuromuscular Referential Center, Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
Nadaj-Pakleza A; Neuromuscular Referential Center, Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
Echaniz-Laguna A; Department of Neurology, APHP, French National Reference Center for Rare Neuropathies (NNERF), Bicêtre University Hospital, Le Kremlin Bicêtre, France.; INSERM U1195, Paris-Saclay University, Le Kremlin Bicêtre, France.
Cauquil C; Department of Neurology, APHP, French National Reference Center for Rare Neuropathies (NNERF), Bicêtre University Hospital, Le Kremlin Bicêtre, France.
Lannes B; Department of Pathology, Strasbourg University Hospital, Strasbourg, France.
Chelly J; CNRS U 7104-Inserm U1258, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.; Laboratoire de Diagnostic Génétique, Strasbourg University Hospital, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Anheim M; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.; INSERM, U1258/CNRS, UMR7104, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Puccio H; INSERM, U1258/CNRS, UMR7104, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.; University of Strasbourg, Strasbourg, France.
Tranchant C; Department of Neurology, Strasbourg University Hospital, 1 avenue Molière, 67098, Strasbourg, France.; INSERM, U1258/CNRS, UMR7104, Institut de Génétique Et de Biologie Moléculaire Et Cellulaire (IGBMC), Illkirch, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
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Źródło :
Journal of neurology [J Neurol] 2021 Sep; Vol. 268 (9), pp. 3337-3343. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Cerebellar Ataxia*/genetics
Spinocerebellar Degenerations*/genetics
Replication Protein C/*genetics
Ataxia ; Cohort Studies ; Humans
Czasopismo naukowe
Tytuł :
Instrumented classification of patients with early onset ataxia or developmental coordination disorder and healthy control children combining information from three upper limb SARA tests.
Autorzy :
Dominguez-Vega ZT; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands. Electronic address: .
Dubber D; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
Elting JWJ; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
Sival DA; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
Maurits NM; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Sep; Vol. 34, pp. 74-83. Date of Electronic Publication: 2021 Jul 30.
Typ publikacji :
Journal Article
MeSH Terms :
Cerebellar Ataxia*
Motor Skills Disorders*
Ataxia/diagnosis ; Child ; Humans ; Movement ; Upper Extremity
Czasopismo naukowe
Tytuł :
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights.
Autorzy :
Sullivan R; Department of Neuromuscular Disease, University College London.
Kaiyrzhanov R; Department of Neuromuscular Disease, University College London.; The National Hospital for Neurology and Neurosurgery, London, UK.
Houlden H; Department of Neuromuscular Disease, University College London.; The National Hospital for Neurology and Neurosurgery, London, UK.
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Źródło :
Current opinion in neurology [Curr Opin Neurol] 2021 Aug 01; Vol. 34 (4), pp. 556-564.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Bilateral Vestibulopathy*
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/genetics
Vestibular Neuronitis*
Ataxia ; Humans ; Replication Protein C
Czasopismo naukowe
Tytuł :
Myoclonus and cerebellar ataxia associated with COVID-19: a case report and systematic review.
Autorzy :
Chan JL; Department of Clinical Neurosciences, University of Calgary, Calgary, AB, T2N 1N4, Canada.
Murphy KA; Department of Psychiatry, University of Calgary, Calgary, AB, T2N 1N4, Canada.
Sarna JR; Department of Clinical Neurosciences, University of Calgary, Calgary, AB, T2N 1N4, Canada. .; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, T2N 4N1, Canada. .
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Źródło :
Journal of neurology [J Neurol] 2021 Oct; Vol. 268 (10), pp. 3517-3548. Date of Electronic Publication: 2021 Feb 22.
Typ publikacji :
Case Reports; Journal Article; Review; Systematic Review
MeSH Terms :
COVID-19*
Cerebellar Ataxia*/complications
Myoclonus*/etiology
Ataxia/complications ; Female ; Humans ; Middle Aged ; SARS-CoV-2
Czasopismo naukowe
Tytuł :
Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations.
Autorzy :
Leeson HC; The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia. Electronic address: .
Hunter Z; The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia.
Chaggar HK; The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia.
Lavin MF; The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Brisbane, QLD 4006, Australia.
Mackay-Sim A; Griffith University, Griffith Institute for Drug Discovery (GRIDD), Nathan, Brisbane, QLD 4111, Australia.
Wolvetang EJ; The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia. Electronic address: .
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Źródło :
Stem cell research [Stem Cell Res] 2021 Oct; Vol. 56, pp. 102528. Date of Electronic Publication: 2021 Sep 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Ataxia Telangiectasia*/genetics
Induced Pluripotent Stem Cells*
Ataxia Telangiectasia Mutated Proteins/genetics ; Biopsy ; Humans ; Mutation/genetics
Czasopismo naukowe

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