Results 1 to 10 of about 366,437 (392)

Friedreich ataxia [PDF]

Journal of the Neurological Sciences, 2023
Friedreich ataxia is an autosomal recessive degenerative disease that primarily affects the nervous system and the heart. It is named after its original description as a "degenerative atrophy of the posterior columns of the spinal cord" by Nicholaus ...
Massimo Pandolfo
semanticscholar   +9 more sources

Ataxia telangiectasia: a review

Orphanet Journal of Rare Diseases, 2016
Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman   +5 more
doaj   +2 more sources

Ataxia [PDF]

Continuum, 2016
Purpose of Review: This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.Recent Findings: Ataxia is a manifestation of a variety of disease processes, and ...
T. Ashizawa, Guangbin Xia
semanticscholar   +3 more sources

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

Nature, 2017
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease.
Daniel R Scoles, Sharan Paul, Warunee Dansithong   +2 more
exaly   +2 more sources

FRIEDREICH'S ATAXIA. [PDF]

The Lancet, 1910
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Amanda Moody
openalex   +4 more sources

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Nature Genetics, 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan   +2 more
exaly   +2 more sources

Ataxia [PDF]

Neurologic Clinics, 2015
Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer.
Umar, Akbar, Tetsuo, Ashizawa
  +5 more sources

Análisis de los antecedentes históricos del proceso de rehabilitación en pacientes hemipléjicos

Ciencia y Deporte, 2022
La rehabilitación del paciente hemipléjico se ha convertido en un importante problema médico – social; esta enfermedad es la tercera causa de muerte en el mundo desarrollado, así como la primera de invalidez en los adultos, por las secuelas motoras ...
Robiel Jesús Pozo Sánchez, Jaqueline Medrano Montero, Esteban Juan Pérez Hernández   +2 more
doaj   +5 more sources

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 2; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 1; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2021
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source