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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 48"
Page 1
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. Teraoka SN, et al. Am J Hum Genet. 1999 Jun;64(6):1617-31. doi: 10.1086/302418. Am J Hum Genet. 1999. PMID: 10330348 Free PMC article.
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of g …
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM g …
Genetic profile and clinical characteristics of Chinese patients with spinocerebellar ataxia type 2: A multicenter experience over 10 years.
Yang L, Dong Y, Ma Y, Ni W, Wu ZY. Yang L, et al. Eur J Neurol. 2021 Mar;28(3):955-964. doi: 10.1111/ene.14601. Epub 2020 Dec 1. Eur J Neurol. 2021. PMID: 33070405
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 2 (SCA2) is the second most common type of spinocerebellar ataxia in China. ...CAG repeat length accounted for 64% of the age-at-onset variance. We observed that patients had a significantly lo …
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 2 (SCA2) is the second most common type of spinocerebellar ataxi …
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. ...Disease course was non-progressive with infantile-onset h …
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characte …
Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7.
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F, Fernandez-Ruiz J. Hernandez-Castillo CR, et al. AJNR Am J Neuroradiol. 2021 Sep;42(9):1735-1739. doi: 10.3174/ajnr.A7202. Epub 2021 Jul 1. AJNR Am J Neuroradiol. 2021. PMID: 34210665 Free PMC article.
Clinically, spinocerebellar ataxia type 7 is characterized by progressive cerebellar ataxia, pyramidal signs, and macular degeneration. ...MATERIALS AND METHODS: Using a semiautomated procedure applied to MR imaging data, we analyzed spinal cord area and ecce …
Clinically, spinocerebellar ataxia type 7 is characterized by progressive cerebellar ataxia, pyramidal signs, and macul …
Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes.
Chirino A, Hernandez-Castillo CR, Galvez V, Contreras A, Diaz R, Beltran-Parrazal L, Fernandez-Ruiz J. Chirino A, et al. Eur J Neurosci. 2018 Nov;48(10):3199-3211. doi: 10.1111/ejn.14148. Epub 2018 Sep 26. Eur J Neurosci. 2018. PMID: 30255962
Spinocerebellar Ataxia Type 7 (SCA7) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) repeat expansion. ...Based on Resonance Images performed in 27 patients we found association between ataxia severity and GMV in "sensoriomotor" cereb …
Spinocerebellar Ataxia Type 7 (SCA7) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) repeat expansion …
Ophthalmic features of spinocerebellar ataxia type 7.
Campos-Romo A, Graue-Hernandez EO, Pedro-Aguilar L, Hernandez-Camarena JC, Rivera-De la Parra D, Galvez V, Diaz R, Jimenez-Corona A, Fernandez-Ruiz J. Campos-Romo A, et al. Eye (Lond). 2018 Jan;32(1):120-127. doi: 10.1038/eye.2017.135. Epub 2017 Aug 11. Eye (Lond). 2018. PMID: 28799562 Free PMC article.
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. ...Further analyses indicated an average ECD decrease of 48 cells/mm(2) (P=0.006) per unit of cha …
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and m …
Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.
Azevedo PB, Rocha AG, Keim LMN, Lavinsky D, Furtado GV, de Mattos EP, Vargas FR, Leotti VB, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica. Azevedo PB, et al. Cerebellum. 2019 Jun;18(3):388-396. doi: 10.1007/s12311-019-1004-3. Cerebellum. 2019. PMID: 30637674
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. ...Gradual changes from controls to pre-symptomatic and then to symptomatic carriers were seen in mean (SD) of visual fields - 1.34 (1.1 …
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and reti …
Spinal cord damage in Machado-Joseph disease.
Fahl CN, Branco LM, Bergo FP, D'Abreu A, Lopes-Cendes I, França MC Jr. Fahl CN, et al. Cerebellum. 2015 Apr;14(2):128-32. doi: 10.1007/s12311-014-0619-7. Cerebellum. 2015. PMID: 25370748
Machado-Joseph disease (SCA3) is the most frequent spinocerebellar ataxia worldwide and characterized by remarkable phenotypic heterogeneity. ...In addition, CA presented a significant correlation with SARA scores in the patient group (p = 0.010). CE was not …
Machado-Joseph disease (SCA3) is the most frequent spinocerebellar ataxia worldwide and characterized by remarkable phenotypic …
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.
Monte TL, Reckziegel ER, Augustin MC, Silva ASP, Locks-Coelho LD, Barsottini O, Pedroso JL, Vargas FR, Saraiva-Pereira ML, Leotti VB, Jardim LB; Rede Neurogenética. Monte TL, et al. Cerebellum. 2017 Aug;16(4):852-858. doi: 10.1007/s12311-017-0855-8. Cerebellum. 2017. PMID: 28456900
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. ...This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be use …
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. ...This stu …
Surgical Responses and Outcomes of Bilateral Medial Rectus Recession in Esotropia With Spinocerebellar Ataxia.
Chun BY, Freire MV, Cestari DM. Chun BY, et al. J Pediatr Ophthalmol Strabismus. 2019 Jul 1;56(4):266-270. doi: 10.3928/01913913-20190514-01. J Pediatr Ophthalmol Strabismus. 2019. PMID: 31322719
PURPOSE: To evaluate the surgical responses and outcomes of bilateral medial rectus (BMR) recession in esotropic patients with spinocerebellar ataxia (SCA) and to compare the results with normal controls. ...Patients with SCA demonstrated a significantly reduced sur …
PURPOSE: To evaluate the surgical responses and outcomes of bilateral medial rectus (BMR) recession in esotropic patients with spinocereb …
89 results