Results 231 to 240 of about 1,451,548 (325)

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons   +8 more
wiley   +1 more source

Prevalence of mental illness, substance use disorder, and dual diagnosis among adults in custody. [PDF]

open access: yesPopul Health Metr
Coulter DJ   +7 more
europepmc   +1 more source

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia   +13 more
wiley   +1 more source

Coprime dual-velocity encoding for extended velocity dynamic range in 4D flow magnetic resonance imaging. [PDF]

open access: yesJ Cardiovasc Magn Reson
Bartoli MB   +6 more
europepmc   +1 more source

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

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

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