Consensus paper: cerebellar development
K Leto, M Arancillo, EBE Becker, A Buffo, C Chiang… - The Cerebellum, 2016 - Springer
The development of the mammalian cerebellum is orchestrated by both cell-autonomous
programs and inductive environmental influences. Here, we describe the main processes of …
programs and inductive environmental influences. Here, we describe the main processes of …
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 …
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
Neurodegeneration as a consequence of failed mitochondrial maintenance
M Karbowski, A Neutzner - Acta neuropathologica, 2012 - Springer
Maintaining the functional integrity of mitochondria is pivotal for cellular survival. It appears
that neuronal homeostasis depends on high-fidelity mitochondria, in particular …
that neuronal homeostasis depends on high-fidelity mitochondria, in particular …
Central ocular motor disorders, including gaze palsy and nystagmus
M Strupp, O Kremmyda, C Adamczyk, N Böttcher… - Journal of …, 2014 - Springer
An impairment of eye movements, or nystagmus, is seen in many diseases of the central
nervous system, in particular those affecting the brainstem and cerebellum, as well as in …
nervous system, in particular those affecting the brainstem and cerebellum, as well as in …
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
T Ashizawa, KP Figueroa, SL Perlman… - Orphanet journal of rare …, 2013 - Springer
Abstract Background All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6
are the four most common SCAs, all caused by expanded polyglutamine-coding CAG …
are the four most common SCAs, all caused by expanded polyglutamine-coding CAG …
Redox mechanisms in neurodegeneration: from disease outcomes to therapeutic opportunities
Significance: Once considered to be mere by-products of metabolism, reactive oxygen,
nitrogen and sulfur species are now recognized to play important roles in diverse cellular …
nitrogen and sulfur species are now recognized to play important roles in diverse cellular …
Brain changes associated with postural training in patients with cerebellar degeneration: a voxel-based morphometry study
RG Burciu, N Fritsche, O Granert, L Schmitz… - Journal of …, 2013 - Soc Neuroscience
Recent research indicates that physiotherapy can improve motor performance of patients
with cerebellar degeneration. Given the known contributions of the cerebellum to motor …
with cerebellar degeneration. Given the known contributions of the cerebellum to motor …
Milestones in genetics of cerebellar ataxias
M Krygier, M Mazurkiewicz-Bełdzińska - neurogenetics, 2021 - Springer
Cerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by
extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar …
extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar …
Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study
M Moscovich, MS Okun, C Favilla… - Journal of Neuro …, 2015 - journals.lww.com
Background: Ocular motor abnormalities reflect the varied neuropathology of
spinocerebellar ataxias (SCAs) and may serve to clinically distinguish the different SCAs …
spinocerebellar ataxias (SCAs) and may serve to clinically distinguish the different SCAs …