Results 61 to 70 of about 161,013 (302)

A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1\u3b1 mutations. [PDF]

open access: yes, 2015
The particular importance of Ca2+ signaling to neurons demands its precise regulation within their cytoplasm. Isoform 3 of the plasma membrane Ca2+ ATPase (the PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the
Brini, Marisa   +9 more
core   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle   +11 more
wiley   +1 more source

Differential diagnosis of hot cross bun sign

open access: yesArchives of Medicine and Health Sciences, 2019
Multiple system atrophy (MSA) is a term that represents a group of neurodegenerative diseases characterized by different levels of autonomic, cerebellar, parkinsonism, and pyramidal features. Hereinafter, we report a case of an elderly male who presented
Jamir Pitton Rissardo   +1 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

open access: yes, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye   +11 more
wiley   +1 more source

An expandable embryonic stem cell-derived Purkinje neuron progenitor population that exhibits in vivo maturation in the adult mouse cerebellum

open access: yesScientific Reports, 2017
The directed differentiation of patient-derived induced pluripotent stem cells into cell-type specific neurons has inspired the development of therapeutic discovery for neurodegenerative diseases.
Gustavo A. Higuera   +10 more
doaj   +1 more source

Cellular Commitment in the Developing Cerebellum

open access: yesFrontiers in Cellular Neuroscience, 2015
The mammalian cerebellum is located in the posterior cranial fossa and is critical for motor coordination and non-motor functions including cognitive and emotional processes. The anatomical structure of cerebellum is distinct with a three-layered cortex.
Hassan eMarzban   +8 more
doaj   +1 more source

Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. [PDF]

open access: yesPLoS ONE, 2012
PURPOSE: A broad spectrum of diseases can manifest cerebellar ataxia. In this study, we investigated whether proton magnetic resonance spectroscopy (MRS) may help differentiate spinocerebellar ataxias (SCA) from multiple systemic atrophy- cerebellar type
Jiing-Feng Lirng   +6 more
doaj   +1 more source

Network-selective vulnerability of the human cerebellum to Alzheimer’s disease and frontotemporal dementia [PDF]

open access: yes, 2016
Neurodegenerative diseases are associated with distinct and distributed patterns of atrophy in the cerebral cortex. Emerging evidence suggests that these atrophy patterns resemble intrinsic connectivity networks in the healthy brain, supporting the ...
Baumann   +10 more
core   +1 more source

Epigenetic cerebellar diseases

open access: yes, 2018
Epigenetics is a growing field of knowledge that is changing our understanding of pathologic processes. For many cerebellar disorders, recent discoveries of epigenetic mechanisms help us to understand their pathophysiology. In this chapter, a short explanation of each epigenetic mechanism (including methylation, histone modification, and miRNA) is ...
openaire   +4 more sources

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