Results 101 to 110 of about 33,006 (235)

Clinical-cognitive Characterization of Spinocerebellar Ataxia Type 2

Revista Finlay, 2021
Background: spinocerebellar ataxia type 2 is a genetic disease with an autosomal dominant inheritance pattern. It constitutes a health problem for Cuba, especially for the Holguín province, which concentrates the largest sick and at-risk population that ...
Alberto Caballero Laguna, Luis Velázquez Pérez, Alián Pérez Marrero   +2 more
doaj   +2 more sources

Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues

Tremor and Other Hyperkinetic Movements, 2014
Background: Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor.
Genko Oyama, Amanda Thompson, Kelly D. Foote, Natlada Limotai, Muhammad Abd‐El‐Barr, Nicholas Maling, Irene A. Malaty, Ramon L. Rodriguez, Sankarasubramoney H. Subramony, Tetsuo Ashizawa, Michael S. Okun   +10 more
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Spinocerebellar Ataxia 21 with Retardation

, 2014
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as ...
John J Millichap, J Gordon Millichap
core   +1 more source

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Madhavi Sandi, Al-Mahdawi, S, Sahar eAl-Mahdawi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sandi, C, Virmouni, SA, Sandi, M, Pook, MA, Mark Adrian Pook, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sara Anjomani Virmouni, Mark A. Pook   +14 more
core   +1 more source

The genetics of spinocerebellar ataxia and dystonia [PDF]

, 2017
Spinocerebellar ataxia and dystonia are movement disorders that affect the movement patterns and coordination of the patients. Although these are separate disorders, they show a large overlap in molecular etiology.
Nibbeling, Esther
core   +3 more sources

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source

A family clinical case of combination of two mendelial diseases: spinocerebellar ataxia type 1 and hypophosphatemic ricketis

Якутский медицинский журнал
The combination of two genetic syndromes in a single patient is a rare occurrence. This article describes a clinical case of a rare combination of two Mendelian diseases: spinocerebellar ataxia type I (SCA 1) and hypophosphatemic rickets in a single ...
M. A. Varlamova, T. K. Davydova, O. G. Sidorova   +2 more
doaj   +1 more source

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

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

International Archives of Otorhinolaryngology, 2017
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive   +6 more
doaj   +1 more source