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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 47"
Page 1
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. ...Severity score was significantly higher for predicted GoF variants, variants in the S5/S6 helices, …
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinoc …
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. ...Together, these data define a potential role for ATM as a predictive biomarker in bladd …
Ataxia-telangiectasia mutated (ATM) plays a central role in the cellular response to DNA damage and ATM alterations are common in sev …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated …
Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias …
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Koeppen AH. Koeppen AH. J Neurol Sci. 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. J Neurol Sci. 2011. PMID: 21315377 Free PMC article. Review.
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. ...Most patients succumb to cardiomyopathy, and many become diab …
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on …
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 …
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13. Lancet Neurol. 2018. PMID: 29553382
BACKGROUND: Spinocerebellar ataxias are dominantly inherited progressive ataxia disorders that can lead to premature death. We aimed to study the overall survival of patients with the most common spinocerebellar ataxias (SCA1, SCA2, SCA3, and SC …
BACKGROUND: Spinocerebellar ataxias are dominantly inherited progressive ataxia disorders that can lead to premature de …
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 analysed the association of factors at baseline with conversion to ataxia and the evolution of outcome parameters on temporal scales (time from inclusion and t …
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. ...We analysed the association o …
Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.
Coarelli G, Brice A, Durr A. Coarelli G, et al. F1000Res. 2018 Nov 12;7:F1000 Faculty Rev-1781. doi: 10.12688/f1000research.15788.1. eCollection 2018. F1000Res. 2018. PMID: 30473770 Free PMC article. Review.
Abstract Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. ...
Abstract Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. ...
Deep Brain Stimulation in Rare Inherited Dystonias.
Beaulieu-Boire I, Aquino CC, Fasano A, Poon YY, Fallis M, Lang AE, Hodaie M, Kalia SK, Lozano A, Moro E. Beaulieu-Boire I, et al. Brain Stimul. 2016 Nov-Dec;9(6):905-910. doi: 10.1016/j.brs.2016.07.009. Epub 2016 Oct 4. Brain Stimul. 2016. PMID: 27743838
Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic …
Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified g …
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Leotti VB, de Vries JJ, Oliveira CM, de Mattos EP, Te Meerman GJ, Brunt ER, Kampinga HH, Jardim LB, Verbeek DS. Leotti VB, et al. Ann Neurol. 2021 Jan;89(1):66-73. doi: 10.1002/ana.25919. Epub 2020 Oct 7. Ann Neurol. 2021. PMID: 32978817
OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical symptoms. ...METHODS …
OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) rep …
33 results