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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 48"
Page 1
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T. Faber J, et al. Mov Disord. 2021 Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5. Mov Disord. 2021. PMID: 33951232 Free PMC article.
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. ...CONCLUSION: Regional brain and spinal cord tissue loss …
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar …
TREC/KREC levels in children with ataxia-telangiectasia.
Boyarchuk O, Makukh H, Kostyuchenko L, Yarema N, Haiboniuk I, Kravets V, Shulhai O, Tretyak B. Boyarchuk O, et al. Immunol Res. 2021 Oct;69(5):436-444. doi: 10.1007/s12026-021-09216-1. Epub 2021 Aug 24. Immunol Res. 2021. PMID: 34427868
The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this pathology. ...
The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish …
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. ...Gait ataxia was present in all individuals and 10 …
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characte …
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 used in SC …
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. ...
PURPOSE: To evaluate the surgical responses and outcomes of bilateral medial rectus (BMR) recession in esotropic patients with spinocereb …
Update on intensive motor training in spinocerebellar ataxia: time to move a step forward?
Lanza G, Casabona JA, Bellomo M, Cantone M, Fisicaro F, Bella R, Pennisi G, Bramanti P, Pennisi M, Bramanti A. Lanza G, et al. J Int Med Res. 2020 Feb;48(2):300060519854626. doi: 10.1177/0300060519854626. Epub 2019 Sep 20. J Int Med Res. 2020. PMID: 31537137 Free PMC article.
Some evidence suggests that high-intensity motor training slows down the severity of spinocerebellar ataxia. However, whether all patients might benefit from these activities, and by which activity, and the underlying mechanisms remain unclear. We provide an update …
Some evidence suggests that high-intensity motor training slows down the severity of spinocerebellar ataxia. However, whether …
Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.
Nascimento FA, Rodrigues VOR, Pelloso FC, Camargo CHF, Moro A, Raskin S, Ashizawa T, Teive HAG. Nascimento FA, et al. Clin Neurol Neurosurg. 2019 Sep;184:105427. doi: 10.1016/j.clineuro.2019.105427. Epub 2019 Jul 10. Clin Neurol Neurosurg. 2019. PMID: 31323545
PATIENTS AND METHODS: Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined. ...Statistically significant differences were found for seve …
PATIENTS AND METHODS: Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 familie …
Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non-Small Cell Lung Cancer.
Chen Y, Chen G, Li J, Huang YY, Li Y, Lin J, Chen LZ, Lu JP, Wang YQ, Wang CX, Pan LK, Xia XF, Yi X, Chen CB, Zheng XW, Guo ZQ, Pan JJ. Chen Y, et al. JAMA Netw Open. 2019 Sep 4;2(9):e1911895. doi: 10.1001/jamanetworkopen.2019.11895. JAMA Netw Open. 2019. PMID: 31539077 Free PMC article.
As important genes in the DNA damage response pathway, comutation in the tumor protein p53 (TP53) and ataxia-telangiectasia mutated (ATM) genes may be associated with genomic instability and hypermutation. ...EXPOSURES: Comprehensive genetic profiling was performed to dete …
As important genes in the DNA damage response pathway, comutation in the tumor protein p53 (TP53) and ataxia-telangiectasia mutated ( …
Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features.
Kim JS, Kim JS, Youn J, Seo DW, Jeong Y, Kang JH, Park JH, Cho JW. Kim JS, et al. Mov Disord. 2013 Aug;28(9):1271-7. doi: 10.1002/mds.25464. Epub 2013 Apr 22. Mov Disord. 2013. PMID: 23609488
Of the 302 patients with a diagnosis of cerebellar ataxia in 3 Korean University Hospitals from June 2011 to June 2012, 48 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, or 8 or with undetermined spinocerebellar ataxias were enrolled. …
Of the 302 patients with a diagnosis of cerebellar ataxia in 3 Korean University Hospitals from June 2011 to June 2012, 48 patients w …
Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series.
Simon AL, Meyblum J, Roche B, Vidal C, Mazda K, Husson I, Ilharreborde B. Simon AL, et al. Spine Deform. 2019 Sep;7(5):812-821. doi: 10.1016/j.jspd.2019.02.005. Spine Deform. 2019. PMID: 31495483
OBJECTIVES: To describe the radiologic characteristics and evolution of spinal shapes in a pediatric cohort of patients with Friedreich ataxia (FA). SUMMARY OF BACKGROUND DATA: FA is a spinocerebellar degenerative disorder responsible for gait impairment in children …
OBJECTIVES: To describe the radiologic characteristics and evolution of spinal shapes in a pediatric cohort of patients with Friedreich a …
33 results