Results 91 to 100 of about 27,164 (223)

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Voyce, DC, Marsden, JF, Day, BL, Bunn, LM, Giunti, P   +4 more
core  

On the redundancy of the Josephin domain (JD) containing proteins and implications on the spinocerebellar ataxia type 3 (SCA3)

, 2023
Docking of the PPI reported in Figure 2, 3A, 3B, 4, 5, and 6 of the manuscript ‘On the redundancy of the Josephin domain (JD) containing proteins and implications on the spinocerebellar ataxia type 3 (SCA3).
Vieira , Jorge, Vieira, Cristina P, Dias, André S., Sousa e Silva, R   +3 more
core   +1 more source

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders [PDF]

, 2003
Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q.
Veneziano, L, Iodice, C, Frontali, M, Mantuano, E, Frontali, M., IODICE, CARLA   +5 more
core   +1 more source

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Journal of the Neurological Sciences, 2020
Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study aims to investigate the prevalence of dysphagia in different disease stages of SCA 1, 2, 3 and 6.We studied 237 genetically confirmed
Yang, Chen-Ya, Lai, Ruo-Yah, Amokrane, Nadia, Lin, Chi-Ying, Figueroa, Karla, Pulst, Stefan, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram, Rosenthal, Liana, Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S, Ashizawa, Tetsuo, Troche, Michelle, Kuo, Sheng-Han   +21 more
openaire   +4 more sources

Kat5 cKO mouse replicates biological domain signatures associated with Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) can be caused by autosomal‐dominant familial Alzheimer's disease (FAD) mutations in amyloid precursor protein (APP) or presenilin‐1 and 2, which form an enzyme substrate complex. KAT5 binds to the APP intracellular domain.
Greg A Cary, Jessica E. Young, Shannon E. Rose, Harald Frankowski, Heather Wilkins, Sai Sruthi Amirtha Ganesh, Julia Draper, Martin Darvas, Mark Bothwell, Suman Jayadev, Aquene N. Reid, Anna Greenwood, Allan I. Levey, Karina Leal, Gregory W. Carter, Jesse C. Wiley   +15 more
wiley   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source

Spinocerebellar ataxia type 3 in Italy. time to change mind

, 2016
In a review on the global epidemiology of hereditary ataxias published in this journal in 2014, it has been reported that spinocerebellar ataxia type 3 (SCA3) is considered to be absent in Italy [1].
MARCOTULLI, CHRISTIAN, ROMANO, SILVIA, Longobardi, Antonino, LEONARDI, LUCA, SANTORELLI, Filippo Maria, PIERELLI, Francesco, SERRAO, Mariano, CASALI, Carlo, RISTORI, GIOVANNI, Storti, Eugenia, Tessa, Alessandra   +10 more
core   +1 more source

Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy

Caucasian Medical Journal
Machado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal
Hugo Mendieta Zerón, David Emmanuel González Mendoza, Pamela Lagos Robles, Miriam Deyanira Rodriguez Piña   +3 more
doaj   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

The Safety of Treating Women With Inflammatory Bowel Disease With Allopurinol and Low‐Dose Thiopurine During Pregnancy: A Single‐Center Experience

JCC Plus, Volume 1, Issue 4, July 2026.
ABSTRACT Background Low‐dose thiopurine therapy in combination with allopurinol (LD‐THIO/ALLO) is a widely used treatment for inflammatory bowel disease (IBD). However, little is known about the effects of in utero exposure to this combination on pregnancy and birth outcomes.
Kavitha Sivananthan, Signe Wildt, Marianne Kiszka‐Kanowitz, Gitte Pedersen, Ida Vind, Inge Nordgaard‐Lassen, Andreas Munk Petersen, Johan Burisch, Helle Kristensen, Klaus Theede   +9 more
wiley   +1 more source