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 …
[HTML][HTML] From pathogenesis to novel therapeutics for spinocerebellar ataxia type 3: evading potholes on the way to translation
Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease
(MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 …
(MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 …
Pharmacological and non-pharmacological management of spinocerebellar ataxia: a systematic review
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative
ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. While an …
ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. While an …
Treatment options in degenerative cerebellar ataxia: a systematic review
H Sarva, VL Shanker - Movement disorders clinical practice, 2014 - Wiley Online Library
The etiology of cerebellar ataxia (CA) is heterogeneous and includes easily identified and
often reversible causes (ie, drug toxicity and vitamin B12 deficiency) as well as irreversible …
often reversible causes (ie, drug toxicity and vitamin B12 deficiency) as well as irreversible …
Machado Joseph disease: clinical and genetic aspects, and current treatment
JAM Saute, LB Jardim - Expert Opinion on Orphan Drugs, 2015 - Taylor & Francis
Introduction: Spinocerebellar ataxia (SCA) type 3/Machado–Joseph disease (SCA3/MJD) is
the most common SCA worldwide. SCA3/MJD is an adult onset cerebellar ataxia associated …
the most common SCA worldwide. SCA3/MJD is an adult onset cerebellar ataxia associated …
Clinical features of Machado-Joseph disease
N Mendonça, MC França, AF Gonçalves… - Polyglutamine …, 2018 - Springer
Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a
hereditary neurodegenerative disease associated with severe clinical manifestations and …
hereditary neurodegenerative disease associated with severe clinical manifestations and …
Pharmacological therapies for Machado-Joseph disease
S Duarte-Silva, P Maciel - Polyglutamine Disorders, 2018 - Springer
Abstract Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia type 3
(SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large …
(SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large …
Polyglutamine spinocerebellar ataxias: emerging therapeutic targets
A Neves-Carvalho, S Duarte-Silva… - Expert Opinion on …, 2020 - Taylor & Francis
Introduction Six of the most frequent dominantly inherited spinocerebellar ataxias (SCAs)
worldwide–SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17–are caused by an expansion of a …
worldwide–SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17–are caused by an expansion of a …
Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies
BR Underwood, DC Rubinsztein - The Cerebellum, 2008 - Springer
Six of the spinocerebellar ataxias (SCAs) are caused by expanded CAG trinucleotide
repeats encoding polyglutamine tracts in different genes. Together with three other …
repeats encoding polyglutamine tracts in different genes. Together with three other …
Protein sequence analysis in the context of drug repurposing
N García Sánchez, E Ugarte Carro… - BMC Medical Informatics …, 2024 - Springer
Motivation Drug repurposing speeds up the development of new treatments, being less
costly, risky, and time consuming than de novo drug discovery. There are numerous …
costly, risky, and time consuming than de novo drug discovery. There are numerous …