المؤلفون: Yao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, China., Cao Y; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Zhang C; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, China., Huang X; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Tian W; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Cao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China.

المصدر: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 56-65. Date of Electronic Publication: 2024 Feb 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Mutation* , Phenotype* , Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/pathology , Spastin*/genetics, Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Age of Onset ; China/epidemiology ; Cohort Studies ; East Asian People/genetics ; Exome Sequencing ; Genetic Predisposition to Disease ; Genotype ; Paraplegia ; Infant, Newborn

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Elert-Dobkowska E; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Stepniak I; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Radziwonik-Fraczyk W; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité-Universitätsmedizin, 10117 Berlin, Germany., Beetz C; Department of Chemistry and Laboratory Medicine, Jena University Hospital, 07747 Jena, Germany.; Centogene, 18055 Rostock, Germany., Sulek A; Faculty of Medicine, Lazarski University, 02-662 Warsaw, Poland.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 03; Vol. 25 (9). Date of Electronic Publication: 2024 May 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Spastin*/genetics , Spastic Paraplegia, Hereditary*/genetics , Haploinsufficiency*/genetics, Humans ; Male ; Female ; Pedigree ; DNA Copy Number Variations ; Adult ; Alu Elements/genetics ; Middle Aged ; Adolescent ; Young Adult ; Nonsense Mediated mRNA Decay

المؤلفون: Aiken J; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Holzbaur ELF; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: holzbaur@pennmedicine.upenn.edu.

المصدر: Current biology : CB [Curr Biol] 2024 Apr 22; Vol. 34 (8), pp. 1687-1704.e8. Date of Electronic Publication: 2024 Mar 29.

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: England NLM ID: 9107782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0445 (Electronic) Linking ISSN: 09609822 NLM ISO Abbreviation: Curr Biol Subsets: MEDLINE

مواضيع طبية MeSH: Spastin*/metabolism , Spastin*/genetics , Microtubules*/metabolism , Axons*/metabolism , Axons*/physiology, Humans ; Induced Pluripotent Stem Cells/metabolism ; Synaptic Vesicles/metabolism ; Presynaptic Terminals/metabolism ; Presynaptic Terminals/physiology ; Neurons/metabolism ; Neurons/physiology ; Synapses/metabolism ; Synapses/physiology

المؤلفون: Wang J; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China., Wu Y; Department of Family Medicine, Inner Mongolia People's Hospital, Hohhot, 010057, China., Dong H; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China., Ji Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China., Zhang L; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China., Liu Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China., Liu Y; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China., Gao X; Department of Pediatrics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China., Jia Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China. JYQ721027@163.com., Wang X; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China. wangxiaohua2222@163.com.

المصدر: BMC medical genomics [BMC Med Genomics] 2023 Dec 08; Vol. 16 (1), pp. 321. Date of Electronic Publication: 2023 Dec 08.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/pathology , Spastin*/genetics , Spastin*/metabolism, Female ; Humans ; Male ; Microtubules/genetics ; Mutation

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Yang J; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Zhang Y; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Cai Z; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Zou J; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Li S; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Miao G; Department of Orthopedics, Foshan Fosun Chancheng Hospital, Foshan 528010, China., Lin H; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China., Zhao X; Department of Orthopedics, Foshan Fosun Chancheng Hospital, Foshan 528010, China. Electronic address: CY1002358969@163.com., Tan M; Department of Orthopaedics, the First Affiliated Hospital of Jinan University, Guangzhou 510630, China. Electronic address: tanminghui@jnu.edu.cn.

المصدر: Brain research bulletin [Brain Res Bull] 2023 Dec; Vol. 205, pp. 110806. Date of Electronic Publication: 2023 Oct 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2747 (Electronic) Linking ISSN: 03619230 NLM ISO Abbreviation: Brain Res Bull Subsets: MEDLINE

مواضيع طبية MeSH: Spastin*/antagonists & inhibitors , Spastin*/metabolism , Spinal Cord Injuries*/drug therapy , Spinal Cord Injuries*/metabolism, Animals ; Mice ; Neurons/metabolism ; Recovery of Function/physiology ; Spinal Cord/metabolism

المؤلفون: Fussiger H; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Pereira BLDS; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Padilha JPD; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Donis KC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Siebert M; Laboratory Research Unit, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Baldo G; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Saute JAM; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

مؤلفون مشاركون: Rare-Genomes Project Consortium; Hospital Israelita Albert Einstein, São Paulo, Brazil.

المصدر: Clinical genetics [Clin Genet] 2023 May; Vol. 103 (5), pp. 580-584. Date of Electronic Publication: 2023 Jan 15.

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

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Spastic Paraplegia, Hereditary*/epidemiology , Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/diagnosis , Spastin*/genetics, Humans ; Brazil/epidemiology ; Cohort Studies ; Mutation ; Proteins/genetics

المؤلفون: Jin Z; Center for Reproductive Medicine, Department of Reproductive Endocrinology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, 310014, China., Zhang ZC; Department of Dispatching Management, Zibo Medical Emergency Command Center, Zibo, Shandong, 255030, China., Xiao CY; Center for Reproductive Medicine, Department of Gynecology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, 310014, China., Li MQ; Center for Reproductive Medicine, Department of Gynecology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, 310014, China., Li QR; Center for Reproductive Medicine, Department of Gynecology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, 310014, China., Gao LL; Center for Reproductive Medicine, Department of Gynecology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, 310014, China.

المصدر: Zygote (Cambridge, England) [Zygote] 2024 Feb; Vol. 32 (1), pp. 21-27. Date of Electronic Publication: 2023 Dec 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9309124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8730 (Electronic) Linking ISSN: 09671994 NLM ISO Abbreviation: Zygote Subsets: MEDLINE

مواضيع طبية MeSH: Kinetochores*/metabolism , Spindle Apparatus*/physiology, Mice ; Animals ; Spastin/genetics ; Spastin/metabolism ; Microtubules/metabolism ; Meiosis ; Oocytes/physiology

المؤلفون: Chen Y; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Department of Neurology, Lab of Neurodegenerative Disorders, and Rare Disease Center of West China Hospital, Sichuan University, Chengdu, 610041, China., Krishnan G; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Parsi S; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.; Center for Systems Biology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA., Pons M; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Nikolaki V; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Cao L; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Xu Z; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA., Gao FB; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA. fen-biao.gao@umassmed.edu.

المصدر: Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Nov 22; Vol. 10 (1), pp. 169. Date of Electronic Publication: 2022 Nov 22.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila Proteins*/genetics , Endosomal Sorting Complexes Required for Transport*/genetics , Frontotemporal Dementia*/pathology , Pick Disease of the Brain* , Spastic Paraplegia, Hereditary*/genetics , Spastin*/genetics , Spastin*/metabolism, Animals ; Mice ; Drosophila/metabolism ; Humans

SCR Disease Name: Chromosome 3-Linked Frontotemporal Dementia

المؤلفون: Zhang Y; Department of Orthopaedics, The First Affiliated Hospital of Jinan University, Guangzhou. 1835106607@qq.com., He X; Clinical Laboratory Center, The First Affiliated Hospital of Jinan University, Guangzhou. 396663955@qq.com., Zou J; Department of Orthopaedics, The First Affiliated Hospital of Jinan University, Guangzhou. zoujianyu@outlook.com., Yang J; Department of Orthopaedics, The First Affiliated Hospital of Jinan University, Guangzhou. 1172088429@qq.com., Ma A; maao1716@163.com., Tan M; Department of Orthopaedics, The First Affiliated Hospital of Jinan University, Guangzhou. tanminghui@jnu.edu.cn.

المصدر: European journal of histochemistry : EJH [Eur J Histochem] 2023 Jan 12; Vol. 67 (1). Date of Electronic Publication: 2023 Jan 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: PagePress Publications Country of Publication: Italy NLM ID: 9207930 Publication Model: Electronic Cited Medium: Internet ISSN: 2038-8306 (Electronic) Linking ISSN: 1121760X NLM ISO Abbreviation: Eur J Histochem Subsets: MEDLINE

مواضيع طبية MeSH: Microtubules*/genetics , Microtubules*/metabolism , Neuronal Outgrowth*/genetics , Spastin*/genetics , Spastin*/metabolism, Animals ; Rats ; Mutation ; Phosphorylation/genetics ; COS Cells ; Chlorocebus aethiops ; Humans

المؤلفون: Knight KAW; Medical School, University of Dundee, Dundee, UK kathryn.knight7@nhs.scot.; Department of Neurology, NHS Tayside, Dundee, UK., Barbour-Hastie C; The University of Edinburgh, Edinburgh, UK., Gane A; The University of Edinburgh, Edinburgh, UK., O'Riordan J; Department of Neurology, NHS Tayside, Dundee, UK.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Apr 17; Vol. 17 (4). Date of Electronic Publication: 2024 Apr 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Paraparesis, Spastic*/genetics , Spastic Paraplegia, Hereditary*/genetics, Humans ; Male ; Genetic Testing ; Mutation ; Pedigree ; Proteins/genetics ; Spastin/genetics ; Adult