Results 121 to 130 of about 114,557 (289)

Spinocerebellar ataxia: perceptual and acoustic analysis of speech in three cases [PDF]

, 2009
BACKGROUND: dysarthrias are commonly found in patients with spinocerebellar ataxias (SCA). AIM: to characterize perceptual and acoustic features of speech in three patients with spinocerebellar ataxia and to verify the presence of similar features among ...
Barreto, Simone dos Santos, Mantovani-Nagaoka, Joana, Martins, Fernanda Chapchap, Ortiz, Karin Zazo   +3 more
core   +2 more sources

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

Science Translational Medicine, 2018
Intravitreal injection of antisense oligonucleotides targeting mutated Ataxin-7 improves visual function in a mouse model of spinocerebellar ataxia type 7.
Chenchen Niu, T. Prakash, Aneeza S. Kim, John L. Quach, Laryssa A. Huryn, Yuechen Yang, Edith Lopez, A. Jazayeri, G. Hung, B. Sopher, Brian P. Brooks, E. Swayze, C. F. Bennett, A. L. La Spada   +13 more
semanticscholar   +1 more source

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia

Tremor and Other Hyperkinetic Movements, 2018
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported.
Pichet Termsarasab, Yuvadee Pitakpatapee, Steven J. Frucht, Prachaya Srivanitchapoom   +3 more
doaj   +1 more source

Restoration from polyglutamine toxicity after free electron laser irradiation of neuron-like cells [PDF]

, 2019
学位記番号 ...
Mohara, Miho, モハラ, ミホ, 茂原, 美穂   +2 more
core  

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7 [PDF]

, 2016
The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time.
Adams, M., CIPOLOTTI, Lisa, Cook, A., Giunti, P., Hunt, H., Moriarty, A.   +5 more
core   +4 more sources

In vivoassessment of neurodegeneration in Spinocerebellar Ataxia type 7 [PDF]

, 2020
Jacob A. Parker, Shabbir Hussain I. Merchant, Sanaz Attaripour-Isfahani, Hyun Joo Cho, Patrick McGurrin, Brian P. Brooks, Albert R. La Spada, Mark Hallett, Laryssa A. Huryn, Silvina G. Horovitz   +9 more
openalex   +1 more source

Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non‐Length‐Dependent Neuropathy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Patients with non‐length‐dependent neuropathy (NLDN) exhibit reduced sensory nerve action potential (SNAP) amplitudes in both lower and upper limbs. This study aimed to determine a threshold for the sural/radial amplitude ratio (SRAR) suggestive of NLDN.
Antoine Pegat, Antoine Gavoille, Florent Cluse, Martin Moussy, Philippe Petiot, Jean‐Philippe Camdessanché, Françoise Bouhour   +6 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]

, 2015
Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu, A Ginestroni, A Ieraci, A Inagaki, A Kelp, A Nocuń, A Poretti, A Poretti, A Rolfs, A Solodkin, A Varrone, AC Stanfield, AG Asokan, AJ Barkovitch, AJ Clapp, Alessandra Vella, Allison Jack, AM Tadesco, AM Wong, Andrea P. Jackowski, Andrea Righini, AR Luft, AR Luft, B Kuemerle, B Soong, BC Jung, C Andrés De, C Cheung, C Garel, C Good, C Jacova, C Limperopoulos, C Lukas, C Moller, C Parazzini, C Scaglione, CC Parker, Cecilia Parazzini, CH Lyoo, Christophe Habas, CJ Stoodley, CW Yoon, D Beitzke, DJG Schutter, DL Vargas, DS Woodruff-Park, E Apartis, E Canu, E Courchesne, E Matsusue, E Matsusue, E Pagani, E Prodi, ED Vidoni, F Brancati, F D’Agata, F Eichler, G Malinger, G Tedeschi, GS Young, H Akhlaghi, H Akhlaghi, H Jacobi, HB Cleavinger, I Ferrer, I Iltis, I Sousa, ID Wilkinson, J Honnorat, J Mazere, J Skefos, J Wegiel, JA Brunberg, JB Schulz, JL Whitwell, JM Kim, Jörg B. Schulz, K Andersen, K Brockmann, K Burk, K Burk, K Ishii, K Lasek, K Nanri, K Nanri, K Pierce, K Reetz, K Reetz, K Reetz, K Reetz, K Specht, K-D Choi, Kathrin Reetz, KB Loh, L Baldaçara, L Ji, L Schols, LA Corben, Leonardo Baldarçara, LI Wallis, LR Ramos, LSK Hokkanen, M Abele, M Anheim, M Bricout, M Catani, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Mascalchi, M Minnerop, M Rapoport, M Sjobeck, M Verly, M Walterfang, M Walterfang, M. Hadjivassiliou, MA Cheh, Mario Mascalchi, MC Bianchi, ME Steenweg, MR Hatab, N Boddaert, N Gharani, N Kimura, N Kimura, N Kimura, N Ramnani, N Stefano De, Nigel Hoggard, O Bas, OS Cohen, P Braga-Neto, P Brown, P Wang, PA Thomann, PS Wang, R Cabeza, R Della Nave, R Della Nave, R Hashimoto, R Scheid, R Sui, S Alcauter, S Basu, S Currie, S Currie, S Currie, S Currie, S Dohlinger, S Gilman, S Gilman, S Nagamitsu, S Ortega-Cuberoa, S Tanaka, SA Cooper, Sara Jane Webb, SH Fatemi, SH Fatemi, SH Fatemi, SH Fatemi, SJ Webb, SM Boesch, SM Ravizza, Stuart Currie, T Klockgether, T Tarui, T Wu, TD Miller, W Scharmüller, WR Kates, Y Bruecker De, Y Daaboul, Y Hosoi, Y Sunaga   +176 more
core   +1 more source