Spinocerebellar ataxia
T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Toward understanding Machado–Joseph disease
M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
Machado-Joseph Disease: from first descriptions to new perspectives
C Bettencourt, M Lima - Orphanet journal of rare diseases, 2011 - Springer
Abstract Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …
The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability
TM Durcan, M Kontogiannea… - Human molecular …, 2011 - academic.oup.com
Abstract Machado–Joseph disease (MJD), the most common dominantly inherited ataxia
worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) …
worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) …
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment
Abstract Machado Joseph Disease (MJD) is the most frequent autosomal dominantly
inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 …
inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 …
'Costa da Morte'ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type
of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat …
of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat …
[PDF][PDF] Epidemiology and population genetics of degenerative ataxias
J Sequeiros, S Martins, I Silveira - Handb Clin Neurol, 2012 - researchgate.net
The hereditary ataxias are clinically and genetically very heterogeneous. They are mainly
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …
Hereditary ataxias in Cuba: a nationwide epidemiological and clinical study in 1001 patients
L Velázquez-Pérez, J Medrano-Montero… - The Cerebellum, 2020 - Springer
The prevalence estimations of hereditary ataxias are biased since most epidemiological
studies are confined to isolated geographical regions and few nationwide studies are …
studies are confined to isolated geographical regions and few nationwide studies are …
Ataxin-3 promotes genome integrity by stabilizing Chk1
Y Tu, H Liu, X Zhu, H Shen, X Ma, F Wang… - Nucleic acids …, 2017 - academic.oup.com
The Chk1 protein is essential for genome integrity maintenance and cell survival in
eukaryotic cells. After prolonged replication stress, Chk1 can be targeted for proteasomal …
eukaryotic cells. After prolonged replication stress, Chk1 can be targeted for proteasomal …
Founder effects of spinocerebellar ataxias in the American continents and the Caribbean
R Rodríguez-Labrada, AC Martins, JJ Magaña… - The Cerebellum, 2020 - Springer
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant
disorders. The relative frequency of the different SCA subtypes varies broadly among …
disorders. The relative frequency of the different SCA subtypes varies broadly among …