المؤلفون: Lin NH; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan., Jian WS; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan., Snider N; Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, North Carolina, USA., Perng MD; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan; School of Medicine, College of Life Sciences and Medicine, National Tsing Hua University, Hsinchu, Taiwan. Electronic address: mdperng@life.nthu.edu.tw.

المصدر: The Journal of biological chemistry [J Biol Chem] 2024 Jul; Vol. 300 (7), pp. 107402. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/metabolism , Alexander Disease*/genetics , Alexander Disease*/pathology , Glial Fibrillary Acidic Protein*/metabolism , Glial Fibrillary Acidic Protein*/genetics , Ubiquitination*, Humans ; Animals ; Mutation ; Mice ; Astrocytes/metabolism ; Astrocytes/pathology ; Brain/metabolism ; Brain/pathology ; Protein Processing, Post-Translational ; Rats ; Male ; Female ; Protein Aggregation, Pathological/metabolism ; Protein Aggregation, Pathological/genetics ; Protein Aggregation, Pathological/pathology

المؤلفون: Shiina A; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan., Ishikawa D; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan., Ishizawa K; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan., Kasahara H; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan., Fujita Y; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan., Mizuta I; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan., Yoshida T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan; Department of Neurology, Japan Community Health Care Organization Kobe Central Hospital, Kobe, Japan., Ikeda Y; Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan. Electronic address: ikeday006@gunma-u.ac.jp.

المصدر: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 May; Vol. 240, pp. 108261. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6968 (Electronic) Linking ISSN: 03038467 NLM ISO Abbreviation: Clin Neurol Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/genetics , Alexander Disease*/diagnostic imaging , Alexander Disease*/diagnosis , Supranuclear Palsy, Progressive*/genetics , Supranuclear Palsy, Progressive*/diagnostic imaging , Glial Fibrillary Acidic Protein*/genetics , Magnetic Resonance Imaging*, Humans ; Female ; Aged ; Diagnosis, Differential ; Tomography, Emission-Computed, Single-Photon ; Brain/diagnostic imaging ; Brain/pathology ; Mutagenesis, Insertional/genetics

المؤلفون: Armangue T; From the Neuroimmunology Program (T.A.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)-Hospital Clinic, University of Barcelona, Barcelona, Spain.; Neurology Department (T.A.), Neuroimmunology Unit, Sant Joan de Deu Children's Hospital, University of Barcelona, Barcelona, Spain., Whitehead MT; Department of Radiology (M.T.W., A.Vossough), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Perelman School of Medicine (M.T.W., A.Vossough, A.W., A.Vanderver), University of Pennsylvania, Philadelphia, Pennsylvania., Tonduti D; Unit of Pediatric Neurology (D.T., Y.V.), Center for Diagnosis and Treatment of Leukodystrophies, V. Buzzi Children's Hospital, University of Milan, Milan, Italy., Farina L; Neuroimaging Laboratory (L.F.), IRCCS Fondazione Santa Lucia, Rome, Italy., Tavasoli AR; Department of Neurology (A.R.T.), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology (A.R.T.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona., Vossough A; Department of Radiology (M.T.W., A.Vossough), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Perelman School of Medicine (M.T.W., A.Vossough, A.W., A.Vanderver), University of Pennsylvania, Philadelphia, Pennsylvania., Bennett ML; Division of Neurology (M.L.B., Y.V., A.W., A.Vanderver), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Vaia Y; Unit of Pediatric Neurology (D.T., Y.V.), Center for Diagnosis and Treatment of Leukodystrophies, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.; Division of Neurology (M.L.B., Y.V., A.W., A.Vanderver), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bernard G; Departments of Neurology and Neurosurgery, Pediatrics, and Human Genetics (G.B.), McGill University, Montreal, Quebec, Canada.; Department of Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Salsano E; Unit of Rare Neurological Diseases (E.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; The Hospital for Sick Children (S.M.-A.), Toronto, Ontario, Canada., Waldman A; Perelman School of Medicine (M.T.W., A.Vossough, A.W., A.Vanderver), University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Neurology (M.L.B., Y.V., A.W., A.Vanderver), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Vanderver A; Perelman School of Medicine (M.T.W., A.Vossough, A.W., A.Vanderver), University of Pennsylvania, Philadelphia, Pennsylvania Vandervera@chop.edu.; Division of Neurology (M.L.B., Y.V., A.W., A.Vanderver), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

المصدر: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2024 Jun 07; Vol. 45 (6), pp. 769-772. Date of Electronic Publication: 2024 Jun 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/diagnostic imaging , Sensitivity and Specificity* , Magnetic Resonance Imaging*/methods, Humans ; Male ; Female ; Adult ; Middle Aged ; Young Adult ; Adolescent ; Brain Stem/diagnostic imaging ; Brain Stem/pathology ; Child ; Aged ; Medulla Oblongata/diagnostic imaging ; Medulla Oblongata/pathology ; Child, Preschool

المؤلفون: Berger JA; Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Simpao AF; Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dubow SR; Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., McClung HA; Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Liu GW; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Waldman AT; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Drum ET; Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

المصدر: Paediatric anaesthesia [Paediatr Anaesth] 2024 Aug; Vol. 34 (8), pp. 810-817. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Journal Article; Observational Study

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: Magnetic Resonance Imaging*/methods , Spinal Puncture*/methods , Alexander Disease*, Humans ; Male ; Retrospective Studies ; Female ; Child ; Child, Preschool ; Adolescent ; Cohort Studies ; Anesthesia, General/methods ; Anesthesia/methods ; Treatment Outcome ; Prospective Studies

المؤلفون: Paprocka J; Department of Pediatric Neurology, Medical University of Silesia, 40-055 Katowice, Poland., Nowak M; Department of Pediatric Neurology, Medical University of Silesia, 40-055 Katowice, Poland., Machnikowska-Sokołowska M; Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Medical University of Silesia, 40-055 Katowice, Poland., Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland., Płoski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.

المصدر: Genes [Genes (Basel)] 2024 Mar 11; Vol. 15 (3). Date of Electronic Publication: 2024 Mar 11.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/genetics , Alexander Disease*/pathology , Drug Resistant Epilepsy* , Hyponatremia* , Spasms, Infantile* , Bone Diseases* , Demyelinating Diseases* , Lysosomal Storage Diseases* , Megalencephaly*/genetics, Child ; Infant, Newborn ; Humans ; Glial Fibrillary Acidic Protein/genetics

المؤلفون: Saito K; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Shigetomi E; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Shinozaki Y; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Kobayashi K; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan., Parajuli B; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Kubota Y; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan., Sakai K; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Miyakawa M; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan., Horiuchi H; Division of Homeostatic Development, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi 444-8585, Japan., Nabekura J; Division of Homeostatic Development, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi 444-8585, Japan., Koizumi S; Department of Neuropharmacology, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.; GLIA Center, University of Yamanashi, Yamanashi 409-3898, Japan.

المصدر: Brain : a journal of neurology [Brain] 2024 Feb 01; Vol. 147 (2), pp. 698-716.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/metabolism , Alexander Disease*/pathology, Mice ; Animals ; Glial Fibrillary Acidic Protein/metabolism ; Astrocytes/metabolism ; Microglia/metabolism ; Clopidogrel/metabolism ; Calcium/metabolism ; Disease Progression ; Adenosine Triphosphate/metabolism

المؤلفون: Stowe NA; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Singh AP; Graduate Program in Cellular and Molecular Biology, University of Wisconsin-Madison, Madison, Wisconsin, USA., Barnett BR; Neuroscience Training Program, Wisconsin Institutes for Medical Research, University of Wisconsin-Madison, Madison, Wisconsin, USA., Yi SY; Neuroscience Training Program, Wisconsin Institutes for Medical Research, University of Wisconsin-Madison, Madison, Wisconsin, USA., Frautschi PC; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Messing A; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA., Hagemann TL; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA., Yu JJ; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Graduate Program in Cellular and Molecular Biology, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Neuroscience Training Program, Wisconsin Institutes for Medical Research, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Department of Biomedical Engineering, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Department of Psychiatry, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

المصدر: Magnetic resonance in medicine [Magn Reson Med] 2024 Mar; Vol. 91 (3), pp. 1087-1098. Date of Electronic Publication: 2023 Nov 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8505245 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-2594 (Electronic) Linking ISSN: 07403194 NLM ISO Abbreviation: Magn Reson Med Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/pathology , White Matter*/pathology, Rats ; Animals ; Diffusion Tensor Imaging/methods ; Rats, Sprague-Dawley ; Brain/diagnostic imaging ; Brain/pathology ; Biomarkers ; Diffusion Magnetic Resonance Imaging

المؤلفون: Sanjo N; Department of Internal Medicine (Neurology), Kudanzaka Hospital, Japan.; Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Japan., Suzuki M; Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Japan., Yoshihama R; Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Japan., Toyoshima Y; Department of Pathology, Brain Research Institute, Niigata University, Japan.; Department of Neurology, Brain Disease Center, Agano Hospital, Japan., Mizuta I; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan., Fujita N; Department of Neurology, Nagaoka Red Cross Hospital, Japan., Usuda H; Department of Pathology, Nagaoka Red Cross Hospital, Japan., Uchiyama Y; Department of Internal Medicine (Neurology), Kudanzaka Hospital, Japan., Yasuda R; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan., Yoshida T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.; Department of Neurology, Japan Community Health Care Organization Kobe Central Hospital, Japan., Yamada M; Department of Internal Medicine (Neurology), Kudanzaka Hospital, Japan.; Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Japan., Yokota T; Department of Neurology and Neurological Science, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Japan.

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2024 Jan 15; Vol. 63 (2), pp. 309-313. Date of Electronic Publication: 2023 May 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/diagnostic imaging , Alexander Disease*/genetics, Humans ; Male ; Middle Aged ; Codon/genetics ; Glial Fibrillary Acidic Protein/genetics ; Magnetic Resonance Imaging/methods ; Medulla Oblongata/diagnostic imaging ; Medulla Oblongata/pathology ; Mutation

المؤلفون: Fang X; Department of Neurology, Beilun Branch, The First Affiliated Hospital, Zhejiang University, Medical School, Hangzhou, China., Liang H; Department of Neurology, The First Affiliated Hospital, Zhejiang University, Medical School, Hangzhou, China.

المصدر: Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 234. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1998-4022 (Electronic) Linking ISSN: 00283886 NLM ISO Abbreviation: Neurol India Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/diagnostic imaging, Adult ; Humans

المؤلفون: Alexander AL; Brown University Warren Alpert Medical School, Providence, Rhode Island, USA., Lim SY; Rhode Island Hospital, Providence, Rhode Island, USA., Massingham LJ; Rhode Island Hospital, Providence, Rhode Island, USA., Phillips O; Rhode Island Hospital, Providence, Rhode Island, USA., Chambers MK; Rhode Island Hospital, Providence, Rhode Island, USA., Donahue JE; Rhode Island Hospital, Providence, Rhode Island, USA.

المصدر: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2023 Dec 22; Vol. 83 (1), pp. 67-68.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Internet ISSN: 1554-6578 (Electronic) Linking ISSN: 00223069 NLM ISO Abbreviation: J Neuropathol Exp Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/genetics, Humans ; Glial Fibrillary Acidic Protein/genetics ; Brain ; Exons ; Mutation