Results 251 to 260 of about 7,975,657 (382)

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron   +3 more
wiley   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier   +20 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Solving perfect matchings by frequency-grouped multi-photon events using a silicon chip. [PDF]

open access: yesNat Commun
Zhu P   +8 more
europepmc   +1 more source

The Impact of In‐Hospital Disease Modifying Treatments on Mental and Physical Burden in Caregiver of Patients With MS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with multiple sclerosis (pwMS) may require a high level of daily assistance both for indoor and outdoor activities. Usually, relatives or friends provide daily support to MS patients who have lost personal autonomy. Several factors such as disability level and disease duration may affect the burden of care in caregivers of ...
Giuseppe Schirò   +9 more
wiley   +1 more source

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