المؤلفون: Pedroso JL; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, BR., Vale TC; Movement Disorders Unit, Departament of Internal Medicine, Universidade Federal de Juiz de Fora, Juiz de Fora, BR., da Costa SCG; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, BR., Santos M; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, PT., Alonso I; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, PT., Barsottini OGP; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, BR.

المصدر: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2020 Oct 07; Vol. 10, pp. 39. Date of Electronic Publication: 2020 Oct 07.

نوع المنشور: Case Reports; Video-Audio Media

بيانات الدورية: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: Electronic Cited Medium: Internet ISSN: 2160-8288 (Electronic) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: MEDLINE

مواضيع طبية MeSH: Apraxias/*physiopathology , Cerebellar Ataxia/*congenital , Cerebellum/*diagnostic imaging , Chorea/*physiopathology , Dystonia/*physiopathology , Hypoalbuminemia/*physiopathology , Reflex, Abnormal/*physiology, Apraxias/diagnostic imaging ; Apraxias/genetics ; Atrophy ; Cerebellar Ataxia/diagnostic imaging ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/physiopathology ; Cerebellar Diseases/physiopathology ; Cerebellum/pathology ; DNA-Binding Proteins/genetics ; Electromyography ; Female ; Humans ; Hypoalbuminemia/diagnostic imaging ; Hypoalbuminemia/genetics ; Nuclear Proteins/genetics ; Young Adult

SCR Disease Name: Early-onset ataxia with oculomotor apraxia and hypoalbuminemia

المؤلفون: Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso G. Teive

المصدر: Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-8 (2019)

مصطلحات موضوعية: Spinocerebellar ataxia, brain imaging, magnetic resonance imaging, ataxia, gait ataxia, cerebellar diseases, Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://tremorjournal.org/index.php/tremor/article/view/682/2440; https://doaj.org/toc/2160-8288

URL الوصول: https://doaj.org/article/ae3f53f219954ca9bcbffbf2854c648b

المؤلفون: Mariana Santos, Sophia Caldas Gonzaga da Costa, Orlando Graziani Povoas Barsottini, Isabel Alonso, José Luiz Pedroso, Thiago Cardoso Vale

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Tremor and Other Hyperkinetic Movements

مصطلحات موضوعية: Movement disorders, genetic structures, ataxia with oculomotor apraxia, DNA-Binding Proteins / genetics, Choreoathetosis, Case Report, Hypoalbuminemia / diagnostic imaging, Dystonia / physiopathology, Cerebellar Ataxia / congenital, Cerebellar Ataxia / physiopathology, Hypoalbuminemia / physiopathology, Cerebellum / diagnostic imaging, Cerebellum, Apraxias / physiopathology, Oculomotor apraxia, ataxia with oculomotor apraxia type 1, Dystonia, Hypoalbuminemia / genetics, Apraxias / genetics, Chorea / physiopathology, Female, Cerebellar atrophy, medicine.symptom, Ataxia with oculomotor apraxia type 1, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, cerebellum, Cerebellar Diseases / physiopathology, Reflex, Abnormal / physiology, Nuclear Proteins / genetics, Young Adult, medicine, Humans, Ataxia with oculomotor apraxia, Cerebellar Ataxia / diagnostic imaging, Aprataxin, Electromyography, business.industry, ataxia, Chorea, medicine.disease, Apraxias / diagnostic imaging, nervous system diseases, Cerebellar Ataxia / genetics, Cerebellum / pathology, movement disorders, Atrophy, business, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276485702ba751861f3a3824d5fc4058
http://europepmc.org/articles/PMC7546098

المؤلفون: Meira AT; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR., Arruda WO; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR., Ono SE; DAPI, Diagnóstico Avançado por Imagem, Curitiba, BR., Neto AC; DAPI, Diagnóstico Avançado por Imagem, Curitiba, BR.; Neurological Diseases Group, Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR., Raskin S; Genetika - Centro de aconselhamento e laboratório de genética, Curitiba, BR., Camargo CHF; Neurological Diseases Group, Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR., Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR.; Neurological Diseases Group, Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR.

المصدر: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2019 Sep 26; Vol. 9. Date of Electronic Publication: 2019 Sep 26 (Print Publication: 2019).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288 (Electronic) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: MEDLINE

مواضيع طبية MeSH: Neuroimaging*, Brain/*diagnostic imaging , Brain/*pathology , Spinocerebellar Ataxias/*diagnostic imaging , Spinocerebellar Ataxias/*pathology, Humans