المؤلفون: Vancheri C; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Quatrana A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Muscular and Neurodegenerative Diseases Laboratory, Bambino Gesù, Children's Hospital, IRCCS, Rome, Italy., Morini E; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Mongelli A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Fichera M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Rufini A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Saint Camillus International University of Health and Medical Sciences, Rome, 00131, Italy., Condò I; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Testi R; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Novelli G; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Neuromed Institute, IRCCS, Pozzilli, 86077, Italy.; Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV, 89557, USA., Malisan F; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy. malisan@med.uniroma2.it., Amati F; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy. amati@med.uiroma2.it.

المصدر: Human genomics [Hum Genomics] 2024 May 22; Vol. 18 (1), pp. 50. Date of Electronic Publication: 2024 May 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/genetics , Friedreich Ataxia*/pathology , Friedreich Ataxia*/blood , MicroRNAs*/genetics , MicroRNAs*/blood , Biomarkers*/blood, Humans ; Male ; Prognosis ; Female ; Adult ; RNA-Seq ; Adolescent ; Leukocytes, Mononuclear/metabolism ; Leukocytes, Mononuclear/pathology ; Child ; Young Adult ; Middle Aged ; Child, Preschool ; ROC Curve ; Case-Control Studies

المؤلفون: Lai Y; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Diaz N; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Armbrister R; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Agoulnik I; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biomolecular Sciences Institute, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Liu Y; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biomolecular Sciences Institute, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.

المصدر: Biomolecules [Biomolecules] 2024 Jul 08; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/genetics , Friedreich Ataxia*/metabolism , Friedreich Ataxia*/pathology , Trinucleotide Repeat Expansion*/genetics , DNA Repair* , Frataxin* , Iron-Binding Proteins*/genetics , Iron-Binding Proteins*/metabolism , Chromatin*/metabolism , Chromatin*/genetics , Mice, Transgenic*, Animals ; Mice ; Humans ; DNA Damage ; Temozolomide/pharmacology ; Neurons/metabolism ; DNA Polymerase beta/metabolism ; DNA Polymerase beta/genetics

المؤلفون: Cocozza S; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Bosticardo S; Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona, Italy., Battocchio M; Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona, Italy., Corben L; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, University of Melbourne, Parkville, Victoria, Australia.; School of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Victoria, Australia., Delatycki M; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, University of Melbourne, Parkville, Victoria, Australia.; School of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Victoria, Australia., Egan G; Turner Institute for Brain and Mental Health, School of Psychological Sciences, Monash University, Clayton, Victoria, Australia.; Monash Biomedical Imaging, Monash University, Clayton, Victoria, Australia., Georgiou-Karistianis N; School of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Victoria, Australia., Monti S; Institute of Biostructures and Bioimaging, National Research Council, Napoli, Italy., Palma G; Institute of Nanotechnology, National Research Council, Lecce, Italy., Pane C; Department of Neurosciences Reproductive and Odontostomatological Sciences, University of Naples 'Federico II', Naples, Italy., Saccà F; Department of Neurosciences Reproductive and Odontostomatological Sciences, University of Naples 'Federico II', Naples, Italy., Schiavi S; Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona, Italy.; ASG Superconductors SpA, Genoa, Italy., Selvadurai L; School of Psychological Sciences, The Turner Institute for Brain and Mental Health, Monash University, Clayton, Victoria, Australia., Tranfa M; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Daducci A; Department of Computer Science, Diffusion Imaging and Connectivity Estimation (DICE) Lab, University of Verona, Verona, Italy., Brunetti A; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Harding IH; Monash Biomedical Imaging, Monash University, Clayton, Victoria, Australia.; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul; Vol. 11 (7), pp. 1691-1702. Date of Electronic Publication: 2024 Jul 01.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/pathology , Friedreich Ataxia*/diagnostic imaging , Diffusion Tensor Imaging* , White Matter*/diagnostic imaging , White Matter*/pathology, Humans ; Male ; Female ; Adult ; Middle Aged ; Cross-Sectional Studies ; Young Adult ; Cerebellar Nuclei/diagnostic imaging ; Cerebellar Nuclei/pathology ; Motor Cortex/pathology ; Motor Cortex/diagnostic imaging ; Thalamus/diagnostic imaging ; Thalamus/pathology ; Neural Pathways/pathology ; Neural Pathways/diagnostic imaging ; Diffusion Magnetic Resonance Imaging

المؤلفون: Grander M; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria., Haschka D; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria., Indelicato E; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Kremser C; Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria., Amprosi M; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Nachbauer W; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Henninger B; Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria., Stefani A; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Högl B; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Fischer C; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria., Seifert M; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria., Kiechl S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; VASCage, Centre on Clinical Stroke Research, Innsbruck, Austria., Weiss G; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria., Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1088-1098. Date of Electronic Publication: 2024 Apr 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/genetics , Friedreich Ataxia*/blood , Friedreich Ataxia*/metabolism , Iron*/metabolism, Humans ; Female ; Male ; Adult ; Liver/metabolism ; Liver/pathology ; Middle Aged ; Magnetic Resonance Imaging ; Young Adult ; Spleen/metabolism ; Leukocytes, Mononuclear/metabolism ; Cation Transport Proteins/genetics ; Cation Transport Proteins/metabolism ; Ferritins/blood ; Ferritins/metabolism ; Hepcidins/genetics ; Hepcidins/blood ; Hepcidins/metabolism ; Pancreas/metabolism ; Pancreas/pathology

المؤلفون: Alemany-Perna B; Ataxia Unit, Neurology Service, ICS/IAS, Hospital Josep Trueta/Hospital Santa Caterina, Girona/Salt, Spain.; Department of Medical Sciences, University of Girona (UdG), Girona, Spain.; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Tamarit J; Departament de Ciències Mèdiques Bàsiques, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain., Cabiscol E; Departament de Ciències Mèdiques Bàsiques, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain., Delaspre F; Departament de Ciències Mèdiques Bàsiques, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain., Miguela A; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Huertas-Pons JM; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Quiroga-Varela A; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Merchan Ruiz M; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., López Domínguez D; Ataxia Unit, Neurology Service, ICS/IAS, Hospital Josep Trueta/Hospital Santa Caterina, Girona/Salt, Spain.; Department of Medical Sciences, University of Girona (UdG), Girona, Spain.; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Ramió I Torrentà L; Department of Medical Sciences, University of Girona (UdG), Girona, Spain.; Neurology Service, ICS/IAS, Hospital Josep Trueta/Hospital Santa Caterina, Girona/Salt, Neurodegeneration and Neuroinflammacion Group (IDIBGI), Girona/Salt, Spain., Genís D; Neurodegeneration and Neuroinflammacion Group, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Ros J; Departament de Ciències Mèdiques Bàsiques, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1099-1108. Date of Electronic Publication: 2024 May 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/drug therapy , Frataxin* , Calcitriol*/pharmacology , Calcitriol*/administration & dosage , Iron-Binding Proteins*, Humans ; Male ; Female ; Adult ; Middle Aged ; Young Adult ; Quality of Life ; Adolescent ; Treatment Outcome

المؤلفون: O'Brien EM; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Neiswinter N; Department of Anesthesiology and Perioperative Medicine, Penn State Health, Hershey, Pennsylvania, USA.; Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA., Lin KY; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lynch D; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Baldwin K; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Orthopedic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Profeta V; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Flynn JM; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Orthopedic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muhly WT; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

المصدر: Paediatric anaesthesia [Paediatr Anaesth] 2024 Jul; Vol. 34 (7), pp. 654-661. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Arnette-Blackwell Country of Publication: France NLM ID: 9206575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-9592 (Electronic) Linking ISSN: 11555645 NLM ISO Abbreviation: Paediatr Anaesth Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/complications , Spinal Fusion*/methods , Perioperative Care*/methods, Humans ; Female ; Retrospective Studies ; Male ; Adolescent ; Postoperative Complications/epidemiology ; Treatment Outcome ; Child ; Scoliosis/surgery

المؤلفون: Lynch DR; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States of America. Electronic address: lynchd@pennmedicine.upenn.edu., Sharma S; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Hearle P; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Greeley N; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Gunther K; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Keita M; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Strawser C; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Hauser L; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Park C; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Schadt K; Divisions of Neurology Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Lin KY; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States of America; Divisions of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Jun 15; Vol. 461, pp. 123053. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/blood , Friedreich Ataxia*/diagnosis , Biomarkers*/blood , Troponin I*/blood , Natriuretic Peptide, Brain*/blood, Humans ; Female ; Male ; Adult ; Middle Aged ; Young Adult ; Troponin T/blood ; Adolescent ; Cardiomyopathies/blood ; Cardiomyopathies/diagnosis ; Cohort Studies

المؤلفون: Casey HL; Department of Neurology, The University of Chicago, Chicago, Illinois, USA., Shah VV; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA.; Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA., Muzyka D; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA., McNames J; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA.; Department of Electrical and Computer Engineering, Portland State University, Portland, Oregon, USA., El-Gohary M; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA., Sowalsky K; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA., Safarpour D; Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA., Carlson-Kuhta P; Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA., Schmahmann JD; Ataxia Center, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Rosenthal LS; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Perlman S; Department of Neurology, University of California, Los Angeles, California, USA., Rummey C; Clinical Data Science, Basel, Switzerland., Horak FB; Precision Motion, APDM Wearable Technologies - a Clario company, Portland, Oregon, USA.; Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA., Gomez CM; Department of Neurology, The University of Chicago, Chicago, Illinois, USA.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 996-1005. Date of Electronic Publication: 2024 Mar 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/physiopathology , Friedreich Ataxia*/diagnosis , Postural Balance*/physiology, Humans ; Male ; Female ; Adult ; Middle Aged ; Reproducibility of Results ; Young Adult ; Standing Position

المؤلفون: Gavriilaki M; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, 54124, Thessaloniki, Greece. mariagavri6@yahoo.gr., Chatzikyriakou E; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, 54124, Thessaloniki, Greece., Moschou M; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, 54124, Thessaloniki, Greece., Arnaoutoglou M; Laboratory of Clinical Neurophysiology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Sakellari I; Hematology Department, Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, 'George Papanikolaou' Hospital, Thessaloniki, Greece., Kimiskidis VK; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, 54124, Thessaloniki, Greece.

المصدر: Cerebellum (London, England) [Cerebellum] 2024 Jun; Vol. 23 (3), pp. 1184-1203. Date of Electronic Publication: 2023 Oct 27.

نوع المنشور: Journal Article; Systematic Review; Meta-Analysis; Review

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/drug therapy , Friedreich Ataxia*/diagnosis , Biomarkers*/blood, Humans

المؤلفون: Ahmad I; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India., Kamai 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., Zahra S; 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., Kapoor H; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India., Kumar Srivastava A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, 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; Division of Investigations of Human Pathology by Application Genomics and Stem Cells (iHPSCs-AG), India. Electronic address: faruq.mohd@igib.res.in.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103382. Date of Electronic Publication: 2024 Mar 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/genetics , Friedreich Ataxia*/pathology , Induced Pluripotent Stem Cells*/metabolism , Frataxin* , Iron-Binding Proteins*/genetics, Humans ; Introns ; Trinucleotide Repeat Expansion ; Male ; Cell Line ; Female