Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
A Durr - The Lancet Neurology, 2010 - thelancet.com
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …
associated genes has provided insight into the mechanisms that could underlie other forms …
Brain pathology of spinocerebellar ataxias
K Seidel, S Siswanto, ERP Brunt, W Den Dunnen… - Acta …, 2012 - Springer
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
The spinocerebellar ataxias
HL Paulson - Journal of neuro-ophthalmology, 2009 - journals.lww.com
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in
origin. The past 15 years have witnessed a revolution in our understanding of the causes of …
origin. The past 15 years have witnessed a revolution in our understanding of the causes of …
Effects of metformin on metabolite profiles and LDL cholesterol in patients with type 2 diabetes
T Xu, S Brandmaier, AC Messias, C Herder… - Diabetes …, 2015 - Am Diabetes Assoc
OBJECTIVE Metformin is used as a first-line oral treatment for type 2 diabetes (T2D).
However, the underlying mechanism is not fully understood. Here, we aimed to …
However, the underlying mechanism is not fully understood. Here, we aimed to …
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias
A Matilla-Dueñas, T Ashizawa, A Brice, S Magri… - The Cerebellum, 2014 - Springer
Intensive scientific research devoted in the recent years to understand the molecular
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
Movement disorders in spinocerebellar ataxias
J van Gaalen, P Giunti… - Movement …, 2011 - Wiley Online Library
Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of
noncerebellar symptoms, including movement disorders. In fact, movement disorders are …
noncerebellar symptoms, including movement disorders. In fact, movement disorders are …
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
M Huang, DS Verbeek - Neuroscience letters, 2019 - Elsevier
The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar
atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally …
atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally …
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias
A Matilla-Dueñas, I Sánchez, M Corral-Juan, A Dávalos… - The Cerebellum, 2010 - Springer
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive
neurodegenerative diseases characterised by loss of balance and motor coordination due to …
neurodegenerative diseases characterised by loss of balance and motor coordination due to …
Epidemiology and population genetics of degenerative ataxias
J Sequeiros, S Martins, I Silveira - Handbook of clinical neurology, 2011 - books.google.com
Prevalence of hereditary ataxias varies largely among populations. Several factors are
involved in this variation. In the ataxias caused by repeat expansions, these may include the …
involved in this variation. In the ataxias caused by repeat expansions, these may include the …
Spinocerebellar ataxias (SCAs) caused by common mutations
U Müller - neurogenetics, 2021 - Springer
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal
dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in …
dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in …