المؤلفون: Sakamoto M; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan., Iwama K; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan., Sekiguchi F; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan., Mashimo H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Ishigaki K; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Behnam M; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran., Ghadami M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.; Cardiac Primary Research Center, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran., Koshimizu E; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan., Miyatake S; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Mitsuhashi S; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan., Takata A; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Miyake N; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan. nmiyake@yokohama-cu.ac.jp., Matsumoto N; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

المصدر: Journal of human genetics [J Hum Genet] 2021 Apr; Vol. 66 (4), pp. 401-407. Date of Electronic Publication: 2020 Oct 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Atrophy/*pathology , Cerebellar Diseases/*pathology , Exosome Multienzyme Ribonuclease Complex/*genetics , Motor Neuron Disease/*pathology , Muscular Atrophy, Spinal/*pathology , Olivopontocerebellar Atrophies/*pathology , RNA-Binding Proteins/*genetics, Atrophy/complications ; Atrophy/genetics ; Cerebellar Diseases/complications ; Cerebellar Diseases/genetics ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Motor Neuron Disease/complications ; Motor Neuron Disease/genetics ; Muscular Atrophy, Spinal/complications ; Muscular Atrophy, Spinal/genetics ; Olivopontocerebellar Atrophies/complications ; Olivopontocerebellar Atrophies/genetics ; Pedigree

SCR Disease Name: Pontocerebellar Hypoplasia Type 1

المؤلفون: Humbert J; St-Patrick Research Group in Basic Oncology, Laval University Cancer Research Center, Axe Oncologie du Centre de Recherche du Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec City, QC G1R 3S3, Canada., Salian S; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Makrythanasis P; Biomedical Research Foundation of the Academy of Athens, Athens 115 27, Greece; Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, 1211 Geneva, Switzerland., Lemire G; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Rousseau J; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Ehresmann S; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Garcia T; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Alasiri R; Rosalind and Morris Goodman Cancer Research Centre, Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1211 Geneva, Switzerland., Hanquinet S; Unit of Pediatric Radiology, Geneva University Hospitals, 1211 Geneva, Switzerland., Beaver E; Mercy Kids Genetics, St. Louis, MO 63141, USA., Heeley J; Mercy Kids Genetics, St. Louis, MO 63141, USA., Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20894, USA., Berger SI; Children's National Health System, Washington, DC 20010, USA., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, 1211 Geneva, Switzerland., Yang XJ; Rosalind and Morris Goodman Cancer Research Centre, Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada., Côté J; St-Patrick Research Group in Basic Oncology, Laval University Cancer Research Center, Axe Oncologie du Centre de Recherche du Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec City, QC G1R 3S3, Canada., Campeau PM; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 564-574. Date of Electronic Publication: 2020 Aug 20.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Atrophy/*genetics , Cerebellar Diseases/*genetics , Intellectual Disability/*genetics , Lysine Acetyltransferase 5/*genetics, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Atrophy/diagnostic imaging ; Atrophy/physiopathology ; Cerebellar Diseases/diagnostic imaging ; Cerebellar Diseases/physiopathology ; Child, Preschool ; Chromatin/genetics ; Chromatin Assembly and Disassembly/genetics ; DNA Repair/genetics ; Epilepsy/diagnostic imaging ; Epilepsy/genetics ; Epilepsy/physiopathology ; Female ; Heterozygote ; Histones/genetics ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/physiopathology ; Male ; Mutation, Missense/genetics ; Protein Processing, Post-Translational/genetics

المؤلفون: Wang J; Program in Developmental Biology, Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA., Rousseau J; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Kim E; Biochemistry and Cell Biology, Rice University, Houston, TX 77005, USA., Ehresmann S; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada., Cheng YT; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA., Duraine L; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zuo Z; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Park YJ; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Li-Kroeger D; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gleeson J; Rady Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92093, USA., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, 11525, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 11525, Saudi Arabia., Wierenga KJ; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 26901, USA; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Chen J; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 26901, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Afenjar A; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France; Département de Génétique et Embryologie Médicale, CRMR des Malformations et Maladies Congénitales du Cervelet, GRC ConCer-LD, Sorbonne Universités, Hôpital Trousseau, Paris, 75012 France., Nava C; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France., Doummar D; Assistance Publique des Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012 France., Keren B; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France., Juusola J; GeneDx, Inc., Gaithersburg, MD 20877, USA., Grompe M; Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97201, USA; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA., Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute and Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu., Campeau PM; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1237-1253. Date of Electronic Publication: 2019 Nov 27.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Oxidative Stress*, Atrophy/*pathology , Cerebellar Diseases/*pathology , Lysosomes/*pathology , Mitochondrial Proteins/*metabolism , Nervous System Diseases/*pathology, Adolescent ; Adult ; Animals ; Atrophy/genetics ; Atrophy/metabolism ; Cerebellar Diseases/genetics ; Cerebellar Diseases/metabolism ; Child ; Drosophila melanogaster/growth & development ; Drosophila melanogaster/metabolism ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Lysosomes/metabolism ; Male ; Mitochondrial Proteins/genetics ; Nervous System Diseases/genetics ; Nervous System Diseases/metabolism ; Pedigree ; Phenotype ; Young Adult

المؤلفون: Gafner M; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Michelson M; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Yosovich K; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel., Blumkin L; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel., Lev D; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. Electronic address: dorlev@post.tau.ac.il.

المصدر: European journal of medical genetics [Eur J Med Genet] 2020 Apr; Vol. 63 (4), pp. 103801. Date of Electronic Publication: 2019 Nov 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Anterior Horn Cells/*pathology , Atrophy/*pathology , Cerebellar Diseases/*pathology , Group VI Phospholipases A2/*genetics , Spinocerebellar Degenerations/*pathology, Adolescent ; Age of Onset ; Anterior Horn Cells/metabolism ; Atrophy/genetics ; Cerebellar Diseases/genetics ; Child ; Female ; Humans ; Infant, Newborn ; Male ; Phenotype ; Prognosis ; Spinocerebellar Degenerations/genetics

المؤلفون: Russo A; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italy., Forest C; Department of Medical Sciences Pediatric Section, University of Ferrara, Italy. Electronic address: frscst@unife.it., Leone GJ; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Tenconi R; Università di Padova, Italy., Maffei M; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuroradiologia, Bologna, Italy., Cersosimo A; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Medicina Riabilitativa, Bologna, Italy., Cordelli DM; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età pediatrica, Bologna, Italy., Suppiej A; Department of Medical Sciences Pediatric Section, University of Ferrara, Italy; Robert Hollman Foundation, Padova, Italy.

المصدر: European journal of medical genetics [Eur J Med Genet] 2021 Dec; Vol. 64 (12), pp. 104361. Date of Electronic Publication: 2021 Oct 12.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Atrophy/*genetics , Cerebellar Diseases/*genetics , Epilepsy/*genetics , Intracellular Signaling Peptides and Proteins/*genetics , Mutation/*genetics, Child ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics ; Phenotype

المؤلفون: Twardowschy CA; Neurology Service and Molecular Biology Laboratory, Hospital de Clínicas, Universidade Federal do Paraná, Brazil., Werneck LC, Scola RH, Borgio JG, De Paola L, Silvado C

المصدر: Seizure [Seizure] 2013 Apr; Vol. 22 (3), pp. 194-7. Date of Electronic Publication: 2013 Jan 06.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Anticonvulsants/*adverse effects , Aryl Hydrocarbon Hydroxylases/*genetics , Atrophy/*genetics , Cerebellar Diseases/*genetics , Epilepsy/*genetics , Phenytoin/*adverse effects, Adolescent ; Adult ; Aged ; Alleles ; Anticonvulsants/therapeutic use ; Atrophy/chemically induced ; Cerebellar Diseases/chemically induced ; Cytochrome P-450 CYP2C9 ; Epilepsy/drug therapy ; Female ; Gene-Environment Interaction ; Genotype ; Humans ; Male ; Middle Aged ; Phenytoin/therapeutic use

المؤلفون: Zhao Z; Division of Experimental Diabetes and Aging, Department of Geriatrics and Palliative Medicine, Mount Sinai School of Medicine, New York, New York, United States of America., Wang J, Zhao C, Bi W, Yue Z, Ma ZA

المصدر: PloS one [PLoS One] 2011; Vol. 6 (10), pp. e26991. Date of Electronic Publication: 2011 Oct 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Atrophy/*genetics , Cerebellar Diseases/*pathology , Group VI Phospholipases A2/*deficiency , Neuroglia/*pathology , Purkinje Cells/*pathology, Animals ; Cerebellar Diseases/genetics ; Group VI Phospholipases A2/genetics ; Interleukin-1beta ; Mice ; Microglia ; Neuroaxonal Dystrophies ; Neuroglia/immunology ; Tumor Necrosis Factor-alpha

المؤلفون: Adams JS; M.I.N.D. Institute, University of California, Davis, CA, USA., Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ

المصدر: Neurology [Neurology] 2007 Aug 28; Vol. 69 (9), pp. 851-9.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Sex Characteristics*, Ataxia/*pathology , Atrophy/*pathology , Cerebellar Diseases/*pathology , Fragile X Syndrome/*pathology , Tremor/*pathology, Adult ; Aged ; Ataxia/genetics ; Ataxia/physiopathology ; Atrophy/genetics ; Cerebellar Diseases/genetics ; Cerebellar Diseases/physiopathology ; DNA Mutational Analysis ; Female ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/genetics ; Fragile X Syndrome/physiopathology ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Nerve Fibers, Myelinated/pathology ; Tremor/genetics ; Tremor/physiopathology ; Trinucleotide Repeat Expansion/genetics

المؤلفون: Hagenah J, Reetz K, Zühlke C, Rolfs A, Binkofski F, Klein C

المصدر: Neurology [Neurology] 2007 Jun 12; Vol. 68 (24), pp. 2157; author reply 2157-8.

نوع المنشور: Case Reports; Comment; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Atrophy/*physiopathology , Cerebellar Diseases/*physiopathology , Cerebellum/*physiopathology , Dystonic Disorders/*physiopathology , Genetic Predisposition to Disease/*genetics, Adult ; Atrophy/genetics ; Atrophy/metabolism ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/metabolism ; Cerebellar Ataxia/physiopathology ; Cerebellar Diseases/genetics ; Cerebellar Diseases/metabolism ; Cerebellum/metabolism ; Cerebellum/pathology ; Dystonic Disorders/genetics ; Dystonic Disorders/metabolism ; Female ; Genotype ; Humans ; Magnetic Resonance Imaging ; Mutation/genetics ; Phenotype ; TATA-Box Binding Protein/genetics ; Voice Disorders/genetics ; Voice Disorders/metabolism ; Voice Disorders/physiopathology

المؤلفون: van der Knaap MS; Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S

المصدر: Neurology [Neurology] 2007 Jul 10; Vol. 69 (2), pp. 166-71.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Atrophy/*pathology , Basal Ganglia/*pathology , Cerebellum/*pathology , Hereditary Central Nervous System Demyelinating Diseases/*pathology , Heredodegenerative Disorders, Nervous System/*pathology, Atrophy/genetics ; Atrophy/physiopathology ; Basal Ganglia/physiopathology ; Basal Ganglia Diseases/genetics ; Basal Ganglia Diseases/pathology ; Basal Ganglia Diseases/physiopathology ; Cerebellar Diseases/genetics ; Cerebellar Diseases/pathology ; Cerebellar Diseases/physiopathology ; Cerebellum/physiopathology ; Child ; Child, Preschool ; Disease Progression ; Female ; Hereditary Central Nervous System Demyelinating Diseases/genetics ; Hereditary Central Nervous System Demyelinating Diseases/physiopathology ; Heredodegenerative Disorders, Nervous System/genetics ; Heredodegenerative Disorders, Nervous System/physiopathology ; Humans ; Inheritance Patterns/genetics ; Magnetic Resonance Imaging ; Male ; Nerve Fibers, Myelinated/pathology ; Predictive Value of Tests ; Syndrome