Results 121 to 130 of about 33,006 (235)

Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Arquivos de Neuro-Psiquiatria
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino, Roberto Paparella, Giorgia Urciuolo, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +6 more
wiley   +1 more source

Aqueous extract of Gardenia jasminoides targeting oxidative stress to reduce polyQ aggregation in cell models of spinocerebellar ataxia 3

, 2017
Spinocerebellar ataxias (SCAs), caused by expanded CAG repeats encoding a long polyglutamine (polyQ) tract in the respective proteins, are characterized by the accumulation of intranuclear and cytoplasmic misfolded polyQ aggregation that leads to cell ...
Chang, Kuo-Hsuan;Chen, Wan-Ling;Wu, Yih-Ru;Lin, Te-Hsien;Wu, Yi-Ci;Chao, Chih-Ying;Lin, Jung-Yaw;Lee, Li-Ching;Chen, Yi-Chun;Lee-Chen, Guey-Jen;Chen, Chiung-Mei, 林榮耀   +1 more
core   +1 more source

Multiomics Profiling During Autoimmune Demyelination Highlights a Complex Regulatory Role for Ataxin‐1 in B Cells

Annals of the New York Academy of Sciences, Volume 1561, Issue 1, July 2026.
Ataxin‐1 has been recently implicated in B cell regulation in the context of multiple sclerosis pathology. In this study, we used a multiomics pipeline to profile the B cell transcriptome, epigenome, and proteome in response to encephalitogenic challenges.
Jonathan J. Carver, Rachael R. Denbrock, Kristy M. Lau, Tonya N. Zeczycki, Changhong Yin, Weihua Huang, Alessandro Didonna   +6 more
wiley   +1 more source

17. Cancer Pain: Part I: Cordotomy for Unilateral Pain due to Cancer

Pain Practice, Volume 26, Issue 6, July 2026.
ABSTRACT Introduction Despite advancements in pharmacological and intrathecal treatment of oncological pain, it remains a significant challenge, affecting 44.5% of patients with cancer, with 30.6% experiencing moderate‐to‐severe pain. Methods This scoping review provides a summary of the literature from 2016 to 2024, focusing on percutaneous cordotomy ...
Bregje Huisman, Martine Puylaert, Liong Liem, Manohar Sharma, Johannes C. F. Ket, Steven P. Cohen, Kris Vissers, Monique Steegers   +7 more
wiley   +1 more source

Sentence stress in ataxic dysarthria : a perceptual and acoustic study

, 2010
This study examined how speakers with ataxic dysarthria produce sentence stress and how these findings relate to other measures of speech performance. Ten speakers with ataxia and ten control speakers performed maximum performance, sentence stress, and ...
MacLeod, J.M, Macleod, J M, Lowit, Anja, Kuschmann, A, Schaeffler, F., Schaeffler, Felix, Kuschmann, A., Lowit, A, MacLeod, J.M., Macleod, J. M., Mennen, I., Mennen, Ineke, Lowit, A.   +12 more
core  

Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient

Case Reports in Psychiatry, 2019
Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011).
Eric Black
doaj   +1 more source

Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
core  

Senseless makes sense for spinocerebellar ataxia-1.

, 2005
Why are some neurons selectively targeted for death in neurodegenerative diseases? A recent paper combines genetics in the fruit fly and mouse to uncover mechanisms underlying the vulnerability of Purkinje cells in spinocerebellar ataxia-1. © 2005 Nature
Tudor A Fulga, Vikram Khurana, Fulga, TA, Fulga, Tudor, Khurana, V, Feany, MB, Mel B Feany   +6 more
core   +1 more source