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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 47"
Page 1
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW. Zhou Y, et al. Sci Adv. 2023 Nov 24;9(47):eadg2263. doi: 10.1126/sciadv.adg2263. Epub 2023 Nov 22. Sci Adv. 2023. PMID: 37992168 Free PMC article.
Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and ATM alterations are common in several tumor types including bladder cancer. ...Furthermore, ATM loss drives sensitivity to DNA repair-targeted agents including poly(ADP-ribo …
Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and ATM alterations are common in sev …
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M. Wilke C, et al. Neurology. 2022 May 17;98(20):e1985-e1996. doi: 10.1212/WNL.0000000000200257. Epub 2022 Mar 9. Neurology. 2022. PMID: 35264424 Free PMC article.
BACKGROUND AND OBJECTIVES: Neurofilament light (NfL) appears to be a promising fluid biomarker in repeat-expansion spinocerebellar ataxias (SCAs), with piloting studies in mixed SCA cohorts suggesting that NfL might be increased at the ataxic stage of SCA type 1 (SC …
BACKGROUND AND OBJECTIVES: Neurofilament light (NfL) appears to be a promising fluid biomarker in repeat-expansion spinocerebellar …
Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial.
França C, de Andrade DC, Silva V, Galhardoni R, Barbosa ER, Teixeira MJ, Cury RG. França C, et al. Parkinsonism Relat Disord. 2020 Nov;80:1-6. doi: 10.1016/j.parkreldis.2020.09.001. Epub 2020 Sep 6. Parkinsonism Relat Disord. 2020. PMID: 32920321 Clinical Trial.
We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. METHODS: We included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. ...The Inte …
We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. METHODS: We included patients with d …
Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3.
Diaféria G, Bommarito S, Braga Neto P, Park SW, Padovani M, Haddad F, Haddad L, Voos MC, Chien HF, Pedroso JL, Barsottini O. Diaféria G, et al. Arq Neuropsiquiatr. 2022 Oct;80(10):1017-1025. doi: 10.1055/s-0042-1755203. Epub 2022 Dec 19. Arq Neuropsiquiatr. 2022. PMID: 36535286 Free PMC article. Clinical Trial.
BACKGROUND: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). ...The International Cooperative Ataxia Rating Scale scores were 32.4 20.2, and the Scale …
BACKGROUND: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and conseque …
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T. Jacobi H, et al. Lancet Neurol. 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0. Lancet Neurol. 2020. PMID: 32822634 Clinical Trial.
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. ...We did genetic testing to identify mutation carriers, with results concealed to the participant and clinical investigator. We assessed patients with clinical …
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. ...We did genetic testing to ide …
Serum neurofilament light chain as a severity marker for spinocerebellar ataxia.
Shin HR, Moon J, Lee WJ, Lee HS, Kim EY, Shin S, Lee ST, Jung KH, Park KI, Jung KY, Lee SK, Chu K. Shin HR, et al. Sci Rep. 2021 Jun 29;11(1):13517. doi: 10.1038/s41598-021-92855-z. Sci Rep. 2021. PMID: 34188109 Free PMC article. Clinical Trial.
Since the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum NfL as a biomarker indicating neuronal damage in autosomal-dominant (AD) spinocerebellar ataxia (SCA). We reviewed patients di …
Since the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum …
Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment.
Lee YC, Liao YC, Wang PS, Lee IH, Lin KP, Soong BW. Lee YC, et al. Mov Disord. 2011 Sep;26(11):2081-7. doi: 10.1002/mds.23809. Epub 2011 May 28. Mov Disord. 2011. PMID: 21626567
Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophy-cerebellar vari …
Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia …
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.
Costantini A, Laureti T, Pala MI, Colangeli M, Cavalieri S, Pozzi E, Brusco A, Salvarani S, Serrati C, Fancellu R. Costantini A, et al. J Neurol. 2016 Nov;263(11):2170-2178. doi: 10.1007/s00415-016-8244-7. Epub 2016 Aug 3. J Neurol. 2016. PMID: 27488863 Free article.
Moreover, deep tendon reflexes reappeared in 57 % of patients with areflexia at baseline, and swallowing improved in 63 % of dysphagic patients. Clinical improvement was stable in all patients, who did not show worsening even after 2 years of treatment. ...Further studies …
Moreover, deep tendon reflexes reappeared in 57 % of patients with areflexia at baseline, and swallowing improved in 63 % of dysphagic patie …
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
Gazulla J, Tintoré MA. Gazulla J, et al. Med Hypotheses. 2007;68(1):131-6. doi: 10.1016/j.mehy.2006.06.014. Epub 2006 Aug 8. Med Hypotheses. 2007. PMID: 16899342
Their highest levels of expression are found in the Purkinje cell layer of the cerebellum, and in the hippocampus. Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar degeneration that shares neuropathological findings with late-onset cortical …
Their highest levels of expression are found in the Purkinje cell layer of the cerebellum, and in the hippocampus. Spinocerebellar …
Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.
Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB. Lockman JL, et al. Paediatr Anaesth. 2012 Mar;22(3):256-62. doi: 10.1111/j.1460-9592.2011.03739.x. Epub 2011 Nov 21. Paediatr Anaesth. 2012. PMID: 22098343
OBJECTIVES/AIM: To report our relatively large experience with perioperative care for patients with Ataxia-Telangiectasia (A-T) and to identify the nature and frequency of complications. ...Anecdotal reports have suggested high perioperative morbidity in patients with A-T, …
OBJECTIVES/AIM: To report our relatively large experience with perioperative care for patients with Ataxia-Telangiectasia (A-T) and t …
18 results