Results 131 to 140 of about 5,948 (206)

Selective silencing of expanded CAG repeats: Chemically modified siRNA advances RNA-based therapies for polyglutamine diseases. [PDF]

Mol Ther Nucleic Acids
Scholten GJ, Hyde JT, Buijsen RAM.
europepmc   +1 more source

Long-term globus pallidus internus deep brain stimulation in a young patient with spinocerebellar ataxia type 3 initially presenting with levodopa-responsive parkinsonism: a 6-year follow-up case report and literature review. [PDF]

Ther Adv Neurol Disord
Zhao J, Ma S, Gao Y, Chen J, Chen J, Shi C, Wang P, Li J, Du J, Wan Z.   +9 more
europepmc   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias. [PDF]

Brain Commun
Scriba CK, Folland C, Black M, Baker J, Abromeit D, Saw S, Chiew MT, Gooding R, Laing NG, Davis MR, Ravenscroft G.   +10 more
europepmc   +1 more source

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment. [PDF]

EBioMedicine
Baumeister H, Wegner P, Ferreira M, Schaprian T, França MC, Rezende TJR, Muro Martinez AR, Jiang H, Chen Z, Weihua L, Grobe-Einsler M, Koyak B, Önder D, van de Warrenburg B, van Gaalen J, Durr A, Coarelli G, Synofzik M, Schöls L, Giunti P, Garcia-Moreno H, Öz G, Joers J, Timmann D, Thieme AG, Jacobi H, de Vries J, Barker P, Onyike C, Ratai EM, Schmahmann JD, Reetz K, Infante J, Huebener-Schmid J, Kuegler D, Klockgether T, Berron D, Faber J, DELCODE/DANCER, ESMI MRI Study Groups.   +39 more
europepmc   +1 more source

Continuous visual stimulus tracking to quantify eye motility in spinocerebellar ataxia type 3. [PDF]

Front Neurol
de Boer MJ, Wasmann RA, Pott JWR, Cornelissen FW, Jansonius NM.   +4 more
europepmc   +1 more source

Interpretable machine learning for differentiating SCA3 and MSA-C using gait and postural features from wearable sensors. [PDF]

J Neuroeng Rehabil
Xiao Y, Luo K, Zhang Y, Zhang W, Sun Q, He B, Gan S, Chen X.   +7 more
europepmc   +1 more source

Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias. [PDF]

Cell Rep
Banez-Coronel M, Zu T, Aldridge M, Guo S, Ajredini R, Morrison D, Tays AB, Duvick LA, Pletnikova O, Yachnis AT, Troncoso JC, Paulson HL, McLoughlin HS, Ashizawa T, Subramony SH, Orr HT, Ranum LPW.   +16 more
europepmc   +1 more source

Allosteric Modulation of Pathological Ataxin-3 Aggregation: A Path to Spinocerebellar Ataxia Type-3 Therapies. [PDF]

Adv Sci (Weinh)
Silva A, Duarte-Silva S, Martins PM, Rodrigues B, Serrenho D, Vilasboas-Campos D, Teixeira-Castro A, Vieyto-Nuñez J, Mieres-Perez J, Figueiredo F, Podlasiak M, Van-der-Kellen T, Fraga J, Noble J, Lantz C, Sepanj N, Monteiro-Fernandes D, Guerreiro S, Neves-Carvalho A, Pereira-Sousa J, Klärner FG, Schrader T, Loo JA, Pastore A, Sanchez-Garcia E, Bitan G, Carvalho AL, Maciel P, Macedo-Ribeiro S.   +28 more
europepmc   +1 more source

Investigation of the large-scale white-matter functional networks in spinocerebellar ataxia type 3. [PDF]

Quant Imaging Med Surg
Tang J, Li S, Liao W, Xing W, Li J, Song B, Yang F, Zhou G, Meng L, Wang D.   +9 more
europepmc   +1 more source