المؤلفون: Liu Q; Department of Orthopedics, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China., Zhang G; Department of Orthopedics, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China., Ji Z; Department of Orthopedics, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China., Lin H; Department of Orthopedics, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, P.R. China.

المصدر: International journal of molecular medicine [Int J Mol Med] 2021 Dec; Vol. 48 (6). Date of Electronic Publication: 2021 Oct 19.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: D.A. Spandidos Country of Publication: Greece NLM ID: 9810955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-244X (Electronic) Linking ISSN: 11073756 NLM ISO Abbreviation: Int J Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Neurogenesis/*physiology , Paraplegia/*etiology , Spastin/*physiology, Animals ; Axons/physiology ; Endosomal Sorting Complexes Required for Transport/chemistry ; Endosomal Sorting Complexes Required for Transport/metabolism ; Humans ; Protein Domains ; Spastin/chemistry

عنوان ترانسليتريتد: Sluchai spasticheskoi paraplegii s mutatsiyami v genakh dvukh form: SPG4 i SPG3.

المؤلفون: Rudenskaya GE; Bochkov Research Centre for Medical Genetics, Moscow, Russia., Kuchina AS; Bochkov Research Centre for Medical Genetics, Moscow, Russia., Kadnikova VA; Bochkov Research Centre for Medical Genetics, Moscow, Russia., Ryzhkova OP; Bochkov Research Centre for Medical Genetics, Moscow, Russia.

المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2023; Vol. 123 (5), pp. 171-176.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 9712194 Publication Model: Print Cited Medium: Print ISSN: 1997-7298 (Print) Linking ISSN: 19977298 NLM ISO Abbreviation: Zh Nevrol Psikhiatr Im S S Korsakova Subsets: MEDLINE

مواضيع طبية MeSH: Paraplegia*/diagnosis , Paraplegia*/genetics , Spastic Paraplegia, Hereditary*/diagnosis , Spastic Paraplegia, Hereditary*/genetics, Adult ; Aged ; Female ; Humans ; Middle Aged ; High-Throughput Nucleotide Sequencing ; Mothers ; Mutation ; Spastin/genetics ; Male

المؤلفون: Qi N; Institute of Medical Genetics, Henan Provincial People's Hospital, Department of Neurology, Henan Provincial People's Hospital, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory for Birth Defect Prevention, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.1004946490@ qq.com., Ma M, Yang K, Lou G, Qin L, Hou Q, Zhang Y, Liao S

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Nov 10; Vol. 37 (11), pp. 1261-1264.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Paraplegia/*genetics , Spastic Paraplegia, Hereditary/*genetics , Spastin/*genetics, Base Sequence ; Humans ; Mutation ; Pedigree ; Sequence Analysis, DNA

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan., Okamoto K; Department of Neurology, Ehime Prefectural Central Hospital, Japan., Gao L; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan., Morishima Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan., Ichinose Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan., Koh K; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan., Hashiyada M; Department of Legal Medicine, Kansai Medical University, Japan., Adachi N; Department of Legal Medicine, Graduate School of Medical Sciences, University of Yamanashi, Japan., Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2020 Sep 15; Vol. 59 (18), pp. 2311-2315. Date of Electronic Publication: 2020 Jun 09.

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: Paraplegia/*diagnosis , Spastic Paraplegia, Hereditary/*diagnosis , Spastin/*genetics, Female ; Heterozygote ; Humans ; Japan ; Mutation ; Phenotype ; Young Adult

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Kawarai T; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, 770-0042, Japan. Electronic address: tkawarai@tokushima-u.ac.jp., Montecchiani C; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy., Miyamoto R; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, 770-0042, Japan., Gaudiello F; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy., Caltagirone C; Laboratorio di Neurologia Clinica e Comportamentale, IRCCS Santa Lucia, Rome, Italy; Dipartimento di Medicina dei Sistemi, Università di Roma 'Tor Vergata', Rome, Italy., Izumi Y; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, 770-0042, Japan., Kaji R; Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, 770-0042, Japan., Orlacchio A; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy. Electronic address: a.orlacchio@hsantalucia.it.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2017 Sep 15; Vol. 380, pp. 92-97. Date of Electronic Publication: 2017 Jul 09.

نوع المنشور: Case Reports; Journal Article; Multicenter Study

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: Mutation*, Paraplegia/*genetics , Paraplegia/*physiopathology , RNA Splice Sites/*genetics , Spastic Paraplegia, Hereditary/*genetics , Spastic Paraplegia, Hereditary/*physiopathology , Spastin/*genetics, Adult ; Aged ; Cells, Cultured ; Cohort Studies ; Family ; Female ; Humans ; Male ; Middle Aged ; Phenotype ; Spastin/metabolism ; T-Lymphocytes/metabolism

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Zhu Z; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: zhuzy@rjlab.cn., Zhang C; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Neurology, Suzhou Hospital Affiliated to Anhui Medical University, Suzhou, China. Electronic address: zhangchao@rjlab.cn., Zhao G; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China; Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China. Electronic address: gzhao@zju.edu.cn., Liu Q; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: drliuqing@126.com., Zhong P; Department of Neurology, Suzhou Hospital Affiliated to Anhui Medical University, Suzhou, China. Electronic address: Dr.zhongping@163.com., Zhang M; Department of Neurology, Huainan First People's Hospital Affiliated to Bengbu Medical College, Huainan, Anhui Province, China. Electronic address: hnzhangmei2008@163.com., Tang W; Department of Neurology, Zhoushan Hospital, Zhoushan, Zhejiang Province, China. Electronic address: tangweiguo2003@163.com., Zhan F; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: zfx@rjlab.cn., Tian W; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: twt@rjlab.cn., Wang Y; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Neurology, Huainan First People's Hospital Affiliated to Bengbu Medical College, Huainan, Anhui Province, China. Electronic address: wangy@rjlab.cn., Yin K; McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences (CAMS) & Peking Union Medical College (PUMC), Beijing, China. Electronic address: yinkailichn@126.com., Huang X; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: huangxj@rjlab.cn., Jiang J; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: jiangjw@rjlab.cn., Liu X; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Neurology, Shanghai Fengxian District Central Hospital, Shanghai Jiao Tong University Affiliated Sixth People's Hospital South Campus, Shangha, China. Electronic address: Liuxl@rjlab.cn., Liu S; Department of Neurology, Suzhou Hospital Affiliated to Anhui Medical University, Suzhou, China. Electronic address: 674863312@qq.com., Zhou H; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: zhaiyan.com@163.com., Luan X; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: green_lxh@hotmail.com., Tang H; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: thd10495@rjh.com.cn., Wang Y; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: wy10395@rjh.com.cn., Chen S; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: ruijincsd@126.com., Cao L; Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: caoli2000@yeah.net.

المصدر: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Dec; Vol. 69, pp. 125-133. Date of Electronic Publication: 2019 Nov 06.

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

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

مواضيع طبية MeSH: Paraplegia/*genetics , Spastic Paraplegia, Hereditary/*genetics , Spastin/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Multiplex Polymerase Chain Reaction ; Mutation ; Exome Sequencing ; Young Adult

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Schieving JH; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands., de Bot ST; Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands., van de Pol LA; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands., Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam, The Netherlands., Brilstra EH; University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands., Frints SG; Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands., van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands., Misra-Isrie M; Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands., Pennings M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands., Verschuuren-Bemelmans CC; University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands., Kamsteeg EJ; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands., Willemsen MA; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

المصدر: Brain : a journal of neurology [Brain] 2019 Jul 01; Vol. 142 (7), pp. e31.

نوع المنشور: Letter; Comment

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: Paraplegia*, Humans ; Mutation ; Phenotype ; Spastin

المؤلفون: González-Salazar C; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Takazaki KAG; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Pimentel-Silva LR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Jacinto-Scudeiro LA; Medical Genetics and Neurology Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine and Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Nakagawa ÉY; Department of Internal Medicine, Neurology Service, Universidade Federal do Paraná, Curitiba, Brazil., Fujiwara Murakami CE; Department of Internal Medicine, Neurology Service, Universidade Federal do Paraná, Curitiba, Brazil., Saute JAM; Medical Genetics and Neurology Services, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine and Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil., Pedroso JL; Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Barsottini OGP; Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Teive HAG; Department of Internal Medicine, Neurology Service, Universidade Federal do Paraná, Curitiba, Brazil., França MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

المصدر: European journal of neurology [Eur J Neurol] 2019 Apr; Vol. 26 (4), pp. 687-693. Date of Electronic Publication: 2019 Jan 10.

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

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Autonomic Nervous System/*physiopathology , Paraplegia/*physiopathology , Spastic Paraplegia, Hereditary/*physiopathology , Spastin/*genetics, Adenosine Triphosphatases/genetics ; Adult ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Paraplegia/genetics ; Spastic Paraplegia, Hereditary/genetics

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Gillespie MK; 1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Humphreys P; 1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; 2 Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., McMillan HJ; 1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; 2 Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Boycott KM; 1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; 3 Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

المصدر: Journal of child neurology [J Child Neurol] 2018 Apr; Vol. 33 (5), pp. 329-332. Date of Electronic Publication: 2018 Feb 08.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cognitive Dysfunction/*genetics , Muscle Spasticity/*genetics , Paraplegia/*genetics , Spastic Paraplegia, Hereditary/*genetics , Spastin/*genetics, Adolescent ; Amino Acid Sequence ; Child, Preschool ; Cognitive Dysfunction/diagnosis ; Diagnosis, Differential ; Female ; Genetic Predisposition to Disease ; Humans ; Muscle Spasticity/diagnosis ; Paraplegia/diagnosis ; Phenotype ; Spastic Paraplegia, Hereditary/diagnosis

SCR Disease Name: Spastic Paraplegia Type 4

المؤلفون: Matthews AM; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Tarailo-Graovac M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Price EM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Blydt-Hansen I; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada., Ghani A; Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada., Drögemöller BI; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Robinson WP; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Ross CJ; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Wasserman WW; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Siden H; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada; Canuck Place Children's Hospice, Vancouver, BC, Canada., van Karnebeek CD; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands. Electronic address: cvankarnebeek@cw.bc.ca.

المصدر: European journal of medical genetics [Eur J Med Genet] 2017 Oct; Vol. 60 (10), pp. 548-552. Date of Electronic Publication: 2017 Aug 01.

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: Mosaicism* , Phenotype*, Autism Spectrum Disorder/*genetics , Heart Defects, Congenital/*genetics , Intellectual Disability/*genetics , Paraplegia/*genetics, Autism Spectrum Disorder/diagnosis ; Autistic Disorder/diagnosis ; Autistic Disorder/genetics ; Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 1/genetics ; Heart Defects, Congenital/diagnosis ; Humans ; Intellectual Disability/diagnosis ; Male ; Mutation, Missense ; Paraplegia/diagnosis ; Paternal Inheritance ; Spastin/genetics

SCR Disease Name: Chromosome 1q21.1 Duplication Syndrome