Results 241 to 250 of about 7,874,399 (296)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

European digital transformation for Roma girls' health: the case of Spain. [PDF]

open access: yesFront Sociol
Miranda DE   +4 more
europepmc   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang   +7 more
wiley   +1 more source

Medication Use in Multiple Sclerosis: A Population‐Based Comparison With the General Danish Population

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease‐modifying therapies. Methods We conducted a nationwide, registry‐based study in Denmark.
Josefine Windfeld‐Mathiasen   +4 more
wiley   +1 more source

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