The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP)
are two groups of neurodegenerative disorders that usually present with progressive gait …
are two groups of neurodegenerative disorders that usually present with progressive gait …
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/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy
CA Matos, LP de Almeida… - Journal of …, 2019 - Wiley Online Library
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA 3), is an incurable disorder, widely regarded as the most common form of …
(SCA 3), is an incurable disorder, widely regarded as the most common form of …
[HTML][HTML] 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 CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
CA Stoyas, AR La Spada - Handbook of clinical neurology, 2018 - Elsevier
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety
of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to …
of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to …
The ubiquitin-proteasome system in neurodegeneration
C McKinnon, SJ Tabrizi - Antioxidants & redox signaling, 2014 - liebertpub.com
Significance: Impairment of the ubiquitin-proteasome system (UPS) has been implicated in
the pathogenesis of a wide variety of neurodegenerative disorders, including Alzheimer's …
the pathogenesis of a wide variety of neurodegenerative disorders, including Alzheimer's …
Neuropeptide Y (NPY) as a therapeutic target for neurodegenerative diseases
J Duarte-Neves, LP de Almeida, C Cavadas - Neurobiology of disease, 2016 - Elsevier
Abstract Neuropeptide Y (NPY) and NPY receptors are widely expressed in the mammalian
central nervous system. Studies in both humans and rodent models revealed that brain NPY …
central nervous system. Studies in both humans and rodent models revealed that brain NPY …
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
Importance Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary
spastic paraplegia (HSP) are scarce. Objective To present the prevalence and distribution of …
spastic paraplegia (HSP) are scarce. Objective To present the prevalence and distribution of …
Ubiquitin/proteasome pathway impairment in neurodegeneration: therapeutic implications
Q Huang, ME Figueiredo-Pereira - Apoptosis, 2010 - Springer
The ubiquitin/proteasome pathway is the major proteolytic quality control system in cells. In
this review we discuss the impact of a deregulation of this pathway on neuronal function and …
this review we discuss the impact of a deregulation of this pathway on neuronal function and …
Polyglutamine diseases: the special case of ataxin-3 and Machado–Joseph disease
Polyglutamine (polyQ) diseases are a group of nine neurodegenerative disorders caused by
an unstable CAG expansion in the codifying region of their respective associated genes …
an unstable CAG expansion in the codifying region of their respective associated genes …