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]
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
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
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]
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
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
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
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]
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]
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
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

