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Tytuł:
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Autorzy:
Oshi MAM; Neurology Division, Gaafar Ibnauf Children's Emergency Hospital, Khartoum, Sudan.
Alfaifi J; Department of Child Health, College of Medicine, University of Bisha, Bisha, Saudi Arabia.
Alqahtani YAM; Department of Child Health, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia.
Aljabri MF; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Kamal NM; Department of Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.
Althopaity J; Department of Medical Genetics, King Fahad Medical City, Riyadh, Saudi Arabia.
Althobaiti KA; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Almalki AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Abosabie SAS; Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Wurzburg, Bavaria, Germany.
Abosabie SA; Faculty of Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany.
Sherbiny HS; Department of Child Health, College of Medicine, University of Bisha, Bisha, Saudi Arabia.; Department of pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Almanjoomi SK; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
Abdallah EAA; Department of Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2282. Date of Electronic Publication: 2023 Oct 06.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*
Epilepsy*
Epilepsy, Generalized*
Humans ; Infant ; Male ; Ataxia/drug therapy ; Ataxia/genetics ; Mutation ; Seizures/drug therapy ; Seizures/genetics ; Transcobalamins/genetics ; Transcobalamins/metabolism ; Vitamin B 12/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Autorzy:
Martínez-Rubio D; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Hinarejos I; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Argente-Escrig H; Department of Neurology, Hospital Universitari Arnau de Vilanova, 46012 València, Spain.
Marco-Marín C; Structural Enzymopathology Unit, Instituto de Biomedicina de Valencia (IBV), Consejo Superior de Investigaciones Científicas (CSIC), 46022 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Lozano MA; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Gorría-Redondo N; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Lupo V; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Martí-Carrera I; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Donostia, 20014 Donostia, Spain.
Miranda C; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
Vázquez-López M; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
García-Pérez A; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Fundación Alcorcón, Alcorcón, 28922 Madrid, Spain.
Marco-Hernández AV; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari Doctor, Peset, 46017 València, Spain.
Tomás-Vila M; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Aguilera-Albesa S; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Espinós C; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Biotechnology Department, Universitat Politècnica de València, 46022 València, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 16; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/genetics
Cerebellar Ataxia*/diagnosis
Cerebellar Diseases*
Spastic Paraplegia, Hereditary*/genetics
Neurodegenerative Diseases*
Child ; Humans ; Genetic Heterogeneity ; Mutation ; Ataxia ; Phenotype ; Paraplegia ; Pedigree ; Atrophy ; Microtubule-Associated Proteins/genetics ; Membrane Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
Autorzy:
Atkinson C; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
McInerney-Leo AM; Dermatology Research Centre, Frazer Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Proctor M; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Lanagan C; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Stevenson AJ; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Dehkhoda F; Dermatology Research Centre, Frazer Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Caole M; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Maas E; Dermatology Research Centre, Frazer Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Ainger S; Dermatology Research Centre, Frazer Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Pritchard AL; Queensland Institute for Medical Research Berghofer, Brisbane, QLD 4006, Australia.
Johansson PA; Queensland Institute for Medical Research Berghofer, Brisbane, QLD 4006, Australia.
Leo P; Centre of Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD 4059, Australia.
Hayward NK; Queensland Institute for Medical Research Berghofer, Brisbane, QLD 4006, Australia.
Sturm RA; Dermatology Research Centre, Frazer Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
Duncan EL; Department of Twin Research and Genetic Epidemiology, School of Life Course & Population Sciences, Faculty of Life Sciences and Medicine, King's College London, London SE1 1UL, UK.
Gabrielli B; Mater Research Institute, The University of Queensland, Brisbane, QLD 4102, Australia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 29; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 29.
Typ publikacji:
Journal Article
MeSH Terms:
Ataxia Telangiectasia Mutated Proteins*/genetics
Ataxia Telangiectasia Mutated Proteins*/metabolism
Melanoma*/genetics
Humans ; Ataxia Telangiectasia/genetics ; Cell Cycle Proteins/metabolism ; DNA Damage/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Oncogenes ; Phosphorylation ; Protein Serine-Threonine Kinases/metabolism ; Tumor Suppressor Protein p53/metabolism ; Tumor Suppressor Proteins/genetics
SCR Disease Name:
Ataxia-Telangiectasia Variant
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.
Autorzy:
Bhattacharjee S; Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, UK.
Paramanandam V; Department of Neurology, Apollo Gleneagles Hospital, Chennai, Tamil Nadu, India.
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Źródło:
Neurology India [Neurol India] 2023 Nov-Dec; Vol. 71 (6), pp. 1307-1308.
Typ publikacji:
Letter
MeSH Terms:
Cerebellar Ataxia*/genetics
Migraine Disorders*/genetics
Adult ; Humans ; Ataxia/genetics ; Mutation/genetics ; Pedigree ; Calcium Channels/genetics
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Patient pathways for rare diseases in Europe: ataxia as an example.
Autorzy:
Vallortigara J; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square House, Queen Square, London, WC1N 3BG, UK.
Greenfield J; Ataxia UK, London, UK.
Hunt B; Ataxia UK, London, UK.
Hoffman D; Takeda Pharmaceuticals, Cambridge, MA, USA.
Reinhard C; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Graessner H; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Federico A; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Italy and European Academy of Neurology, Siena, Italy.
Quoidbach V; European Brain Council, Brussels, Belgium.
Morris S; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square House, Queen Square, London, WC1N 3BG, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 17; Vol. 18 (1), pp. 328. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Rare Diseases*
Cerebellar Ataxia*
Humans ; Ataxia/therapy ; Europe ; Delivery of Health Care
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
FTO-targeted siRNA delivery by MSC-derived exosomes synergistically alleviates dopaminergic neuronal death in Parkinson's disease via m6A-dependent regulation of ATM mRNA.
Autorzy:
Geng Y; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
Long X; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
Zhang Y; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
Wang Y; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
You G; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
Guo W; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China.
Zhuang G; Department of Radiology, Guangzhou Panyu Central Hospital, Guangzhou, 511400, China.
Zhang Y; The affiliated TCM Hospital of Guangzhou Medical University, Guangzhou, 510130, China. .
Cheng X; State Key Laboratory of Dampness, Syndrome of Chinese Medicine, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, China. .; Provincial Key Laboratory of Research on Emergency in TCM, Guangzhou, China. .; Department of Neurology, Guangdong Provincial Hospital of Traditional Chinese Medicine, Guangzhou, 510120, China. .
Yuan Z; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China. .
Zan J; School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, Guangzhou, 510006, China. .
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Źródło:
Journal of translational medicine [J Transl Med] 2023 Sep 22; Vol. 21 (1), pp. 652. Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Parkinson Disease*/genetics
Parkinson Disease*/therapy
Exosomes*
Ataxia Telangiectasia*
Humans ; Animals ; Mice ; RNA, Small Interfering ; RNA, Messenger/genetics ; Dopaminergic Neurons ; Dopamine ; Alpha-Ketoglutarate-Dependent Dioxygenase FTO ; Ataxia Telangiectasia Mutated Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The fructose-bisphosphate, Aldolase A (ALDOA), facilitates DNA-PKcs and ATM kinase activity to regulate DNA double-strand break repair.
Autorzy:
Sobanski T; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Suraweera A; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Burgess JT; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Richard I; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Cheong CM; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Dave K; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Rose M; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
Adams MN; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.
O'Byrne KJ; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia.; Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane, QLD, 4102, Australia.
Richard DJ; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia. .
Bolderson E; Cancer and Ageing Research Program, Centre for Genomics and Personalised Health, Queensland University of Technology (QUT), Translational Research Institute (TRI), 37 Kent Street, Woolloongabba, Brisbane, Australia. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 13; Vol. 13 (1), pp. 15171. Date of Electronic Publication: 2023 Sep 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fructose-Bisphosphate Aldolase*/genetics
Ataxia Telangiectasia*
Humans ; DNA-Activated Protein Kinase ; DNA Repair ; Fructose ; DNA ; Ataxia Telangiectasia Mutated Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Excessive excitability of inhibitory cortical circuit and disturbance of ballistic targeting movement in degenerative cerebellar ataxia.
Autorzy:
Matsugi A; Faculty of Rehabilitation, Shijonawate Gakuen University, Hojo 5-11-10, Daitou City, Osaka, 574-0011, Japan. .
Nishishita S; Institute of Rehabilitation Science, Tokuyukai Medical Corporation, 3-11-1 Sakuranocho, Toyonaka City, Osaka, 560-0054, Japan.; Kansai Rehabilitation Hospital, 3-11-1 Sakuranocho, Toyonaka City, Osaka, 560-0054, Japan.
Bando K; National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, 187-0031, Japan.
Kikuchi Y; Department of Rehabilitation for Intractable Neurological Disorders, Institute of Brain and Blood Vessels Mihara Memorial Hospital, Ohtamachi 366, Isesaki City, Gunma, 372-0006, Japan.
Tsujimoto K; National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, 187-0031, Japan.
Tanabe Y; Department of Rehabilitation for Intractable Neurological Disorders, Institute of Brain and Blood Vessels Mihara Memorial Hospital, Ohtamachi 366, Isesaki City, Gunma, 372-0006, Japan.
Yoshida N; Okayama Healthcare Professional University, 3-2-18 Daiku, Kita-ku, Okayama City, Okayama, 700-0913, Japan.
Tanaka H; KMU Day-Care Center Hirakata, Kansai Medical University Hospital, Shinmachi 2-3-1, Hirakata City, Osaka, 573-1191, Japan.; Department of Physical Medicine and Rehabilitation, Kansai Medical University, Shinmachi 2-5-1, Hirakata City, Osaka, 573-1010, Japan.
Douchi S; Department of Rehabilitation, National Hospital Organization Wakayama Hospital, Hukakusamukaihatacyo1-1, Husimi-ku, Kyoto City, Kyoto, 612-8555, Japan.
Honda T; The Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.
Odagaki M; Maebashi Institute of Technology, Maebashi, Gunma Prefecture, Japan.
Nakano H; Department of Physical Therapy, Faculty of Health Sciences, Kyoto Tachibana University, Kyoto, Japan.
Okada Y; Neurorehabilitation Research Center of Kio University, Koryo-cho, Kitakatsuragi-gun, Nara, 635-0832, Japan.
Mori N; Department of Neurosurgery, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita City, Osaka, 565-0871, Japan.
Hosomi K; Department of Neurosurgery, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita City, Osaka, 565-0871, Japan.
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 25; Vol. 13 (1), pp. 13917. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cerebellar Ataxia*
Cortical Excitability*
Humans ; Aged ; Ataxia ; Movement ; Hand
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.
Autorzy:
Rodden LN; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
McIntyre K; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Keita M; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Wells M; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Park C; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Profeta V; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Waldman A; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Rummey C; Clinical Data Science GmbH, Basel, Switzerland.
Balcer LJ; Departments of Neurology, Population Health and Ophthalmology, NYU Grossman School of Medicine, New York, New York, USA.
Lynch DR; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Aug; Vol. 10 (8), pp. 1397-1406. Date of Electronic Publication: 2023 Jun 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Friedreich Ataxia*/complications
Adult ; Child ; Humans ; Vision Disorders/etiology ; Ataxia ; Retina/diagnostic imaging ; Disease Progression
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization.
Autorzy:
Ågren R; Department of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.
Geerdink N; Department of Pediatrics, Rijnstate Hospital, 6815 AD Arnhem, The Netherlands.
Brunner HG; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Department of Clinical Genetics, MUMC Maastricht, GROW School for Oncology and Developmental Biology, MHENS School for Mental Health and Neuroscience, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.
Paucar M; Department of Neurology, Karolinska University Hospital, 141 86 Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.
Kamsteeg EJ; Department of Human Genetics, Radboud UMC, 6525 GA Nijmegen, The Netherlands.
Sahlholm K; Department of Physiology and Pharmacology, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Integrative Medical Biology, Wallenberg Centre for Molecular Medicine, Umeå University, 901 87 Umeå, Sweden.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 30; Vol. 24 (13). Date of Electronic Publication: 2023 Jun 30.
Typ publikacji:
Case Reports
MeSH Terms:
Spinocerebellar Degenerations*/genetics
Cerebellar Ataxia*
Male ; Female ; Humans ; Shal Potassium Channels/genetics ; Mutation, Missense ; Mutation ; Ataxia
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genome-Wide Screening in Human Embryonic Stem Cells Highlights the Hippo Signaling Pathway as Granting Synthetic Viability in ATM Deficiency.
Autorzy:
Viner-Breuer R; The Azrieli Center for Stem Cells and Genetic Research, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.; Department of Genetics, Institute of Life Sciences, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.
Golan-Lev T; The Azrieli Center for Stem Cells and Genetic Research, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.; Department of Genetics, Institute of Life Sciences, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.
Benvenisty N; The Azrieli Center for Stem Cells and Genetic Research, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.; Department of Genetics, Institute of Life Sciences, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.
Goldberg M; Department of Genetics, Institute of Life Sciences, The Hebrew University, Givat-Ram, Jerusalem 9190401, Israel.
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Źródło:
Cells [Cells] 2023 May 29; Vol. 12 (11). Date of Electronic Publication: 2023 May 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Human Embryonic Stem Cells*/metabolism
Ataxia Telangiectasia*/drug therapy
Humans ; Ataxia Telangiectasia Mutated Proteins/genetics ; Ataxia Telangiectasia Mutated Proteins/metabolism ; Hippo Signaling Pathway ; Gene Regulatory Networks ; Molecular Chaperones/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Autorzy:
Olkhova EA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Smith LA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Bradshaw C; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
Erskine D; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
Ng YS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 02; Vol. 24 (11). Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cerebellar Ataxia*/pathology
Mitochondrial Diseases*/genetics
Mitochondrial Diseases*/pathology
Mice ; Animals ; Humans ; Ataxia/genetics ; Purkinje Cells/pathology ; Seizures/pathology ; Phenotype ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Autorzy:
Durmaz Çelik N; Department of Neurology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey. .
Erzurumluoğlu E; Department of Medical Genetics, Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
Özben S; Department of Neurology, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey.
Toprak U; Department of Radiology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey.
Yorulmaz G; Department of Endocrinology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey.
Artan S; Department of Medical Genetics, Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
Özkan S; Department of Neurology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 May 09; Vol. 16 (1), pp. 98. Date of Electronic Publication: 2023 May 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cerebellar Ataxia*/genetics
Klinefelter Syndrome*
Humans ; Ataxia ; Mutation ; Ubiquitin-Protein Ligases/genetics
SCR Disease Name:
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Design, Synthesis, and Biological Evaluation of Potent and Selective Inhibitors of Ataxia Telangiectasia Mutated and Rad3-Related (ATR) Kinase for the Efficient Treatment of Cancer.
Autorzy:
Shao J; Department of Medicinal Chemistry, School of Pharmacy, China Pharmaceutical University, Nanjing 210009, China.
Huang L; Department of Medicinal Chemistry, School of Pharmacy, China Pharmaceutical University, Nanjing 210009, China.; Department of Pharmacology and Medicinal Chemistry, Jiangsu Vocational College of Medicine, Yancheng 224005, China.
Lai W; Department of Medicinal Chemistry, School of Pharmacy, China Pharmaceutical University, Nanjing 210009, China.
Zou Y; Department of Medicinal Chemistry, School of Pharmacy, China Pharmaceutical University, Nanjing 210009, China.
Zhu Q; Department of Medicinal Chemistry, School of Pharmacy, China Pharmaceutical University, Nanjing 210009, China.; Jiangsu Key Laboratory of Drug Design and Optimization, Department of Medicinal Chemistry, China Pharmaceutical University, Nanjing 211198, China.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2023 Jun 02; Vol. 28 (11). Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Ataxia Telangiectasia*
Neoplasms*
Antineoplastic Agents*/pharmacology
Antineoplastic Agents*/therapeutic use
Humans ; Mice ; Animals ; Ataxia Telangiectasia Mutated Proteins/metabolism ; Cisplatin/pharmacology ; DNA Damage
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model.
Autorzy:
Chisada S; Department of Hygiene and Public Health, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Ohtsuka K; Department of Laboratory Medicine, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Fujiwara M; Department of Pathology, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Yoshida M; Department of Hygiene and Public Health, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Matsushima S; Department of Laboratory Medicine, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Watanabe T; Department of Laboratory Medicine, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Karita K; Department of Hygiene and Public Health, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Ohnishi H; Department of Laboratory Medicine, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
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Źródło:
PloS one [PLoS One] 2023 Apr 25; Vol. 18 (4), pp. e0282277. Date of Electronic Publication: 2023 Apr 25 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Ataxia Telangiectasia*/genetics
Oryzias*/genetics
Oryzias*/metabolism
Animals ; Cell Cycle Proteins/metabolism ; Protein Serine-Threonine Kinases/metabolism ; Germ-Line Mutation ; Tumor Suppressor Proteins/genetics ; DNA Damage ; Ataxia Telangiectasia Mutated Proteins/genetics ; Ataxia Telangiectasia Mutated Proteins/metabolism ; Mutation ; Carcinogenesis ; Cell Transformation, Neoplastic ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CCP1, a Regulator of Tubulin Post-Translational Modifications, Potentially Plays an Essential Role in Cerebellar Development.
Autorzy:
Pang B; Department of Organ Pathology, Faculty of Medicine, Shimane University, 89-1 Enya, Izumo 693-8501, Japan.
Araki A; Pathology Division, Shimane University Hospital, Izumo 693-8501, Japan.
Zhou L; Department of Cellular Neurobiology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
Takebayashi H; Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
Harada T; Department of Organ Pathology, Faculty of Medicine, Shimane University, 89-1 Enya, Izumo 693-8501, Japan.
Kadota K; Pathology Division, Shimane University Hospital, Izumo 693-8501, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 10; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 10.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/metabolism
Serine-Type D-Ala-D-Ala Carboxypeptidase*/genetics
Serine-Type D-Ala-D-Ala Carboxypeptidase*/metabolism
Animals ; Male ; Mice ; Ataxia/genetics ; GTP-Binding Proteins/metabolism ; Mice, Knockout ; Protein Processing, Post-Translational ; Purkinje Cells/metabolism ; Tubulin/genetics ; Tubulin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Seizures and central vestibular nystagmus as the initial presentation of leukoencephalopathy with ataxia (LKPAT).
Autorzy:
Nandana J; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Girdhar S; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Thomas B; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Sundaram S; Pediatric Neurology and Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, 695011, Kerala, India. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Mar; Vol. 44 (3), pp. 1083-1085. Date of Electronic Publication: 2022 Oct 27.
Typ publikacji:
Letter
MeSH Terms:
Cerebellar Ataxia*
Nystagmus, Pathologic*/diagnosis
Nystagmus, Pathologic*/etiology
Leukoencephalopathies*
Vestibular Diseases*
Humans ; Ataxia/complications ; Ataxia/diagnosis ; Seizures/complications ; Seizures/diagnosis
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Proof of Concept Combined Using Mixed Reality for Personalized Neurorehabilitation of Cerebellar Ataxic Patients.
Autorzy:
Franzò M; Department of Mechanical and Aerospace Engineering, 'Sapienza' University of Rome, 00184 Rome, Italy.
Pica A; Department of Mechanical and Aerospace Engineering, 'Sapienza' University of Rome, 00184 Rome, Italy.
Pascucci S; Department of Mechanical and Aerospace Engineering, 'Sapienza' University of Rome, 00184 Rome, Italy.; National Centre for Clinical Excellence, Healthcare Quality and Safety, Italian National Institute of Health, 00161 Rome, Italy.
Serrao M; Department of Medical and Surgical Sciences and Biotechnologies, 'Sapienza' University of Rome, 00185 Rome, Italy.
Marinozzi F; Department of Mechanical and Aerospace Engineering, 'Sapienza' University of Rome, 00184 Rome, Italy.
Bini F; Department of Mechanical and Aerospace Engineering, 'Sapienza' University of Rome, 00184 Rome, Italy.
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Źródło:
Sensors (Basel, Switzerland) [Sensors (Basel)] 2023 Feb 03; Vol. 23 (3). Date of Electronic Publication: 2023 Feb 03.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*
Augmented Reality*
Neurological Rehabilitation*
Humans ; Ataxia ; Upper Extremity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.
Autorzy:
Benussi A; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy.
Batsikadze G; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, 45147 Essen, Germany.
França C; Movement Disorders Center, Department of Neurology, University of São Paulo, São Paulo 05508-010, Brazil.
Cury RG; Movement Disorders Center, Department of Neurology, University of São Paulo, São Paulo 05508-010, Brazil.
Maas RPPWM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
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Źródło:
Cells [Cells] 2023 Apr 20; Vol. 12 (8). Date of Electronic Publication: 2023 Apr 20.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Transcranial Direct Current Stimulation*/methods
Cerebellar Ataxia*/therapy
Spinocerebellar Degenerations*
Humans ; Cerebellum/physiology ; Transcranial Magnetic Stimulation/methods ; Ataxia/therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene.
Autorzy:
Czarny J; Faculty of Medicine, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
Andrzejewska M; Faculty of Medicine, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
Zając-Spychała O; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Latos-Grażyńska E; Department of Pediatric Bone Marrow Transplantation, Oncology and Hematology, Wrocław Medical University, 50-556 Wrocław, Poland.
Pastorczak A; Department of Pediatrics, Oncology and Hematology, Medical University of Łódź, 91-738 Łódź, Poland.
Wypyszczak K; Department of Pediatrics, Oncology and Hematology, Medical University of Łódź, 91-738 Łódź, Poland.
Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Niewiadomska-Wojnałowicz I; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Wziątek A; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Marciniak-Stępak P; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Dopierała M; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.; Department of Pathology and Clinical Immunology, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Małdyk J; Department of Pathology, Medical University of Warsaw, 02-106 Warsaw, Poland.
Jończyk-Potoczna K; Department of Pediatric Radiology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
Derwich K; Department of Pediatric Oncology, Hematology and Transplantology, Institute of Pediatrics, Poznań University of Medical Sciences, 60-355 Poznań, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 06; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 06.
Typ publikacji:
Case Reports
MeSH Terms:
Lymphoma, Large B-Cell, Diffuse*/drug therapy
Ataxia Telangiectasia*/drug therapy
Ataxia Telangiectasia*/genetics
Female ; Humans ; Child ; Methotrexate/therapeutic use ; Positron Emission Tomography Computed Tomography ; Rituximab/genetics ; Prednisone/therapeutic use ; Cyclophosphamide/therapeutic use ; Mutation ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Vincristine/therapeutic use ; Doxorubicin/therapeutic use ; Ataxia Telangiectasia Mutated Proteins/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 44901

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