Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Correction: Nishikubo et al. FGFR2 Might Be a Promising Therapeutic Target for Some Solid Tumors: Analysis of 1312 Cancers with <i>FGFR2</i> Abnormalities. <i>Int. J. Mol. Sci.</i> 2025, <i>26</i>, 10777. [PDF]
Nishikubo H +8 more
europepmc +1 more source
Health and guardianship law: Children, consent and the refusal of blood: A recent Queensland case [PDF]
Malcolm K. Smith
openalex
Portable Low‐Field Magnetic Resonance Imaging in People With Human Immunodeficiency Virus
ABSTRACT Objective The aging population of people with HIV (PWH) raises heightened concerns regarding accelerated aging and dementia. Portable, low‐field MRI (LF‐MRI) is an innovative technology that could enhance access and facilitate routine monitoring of PWH.
Annabel Sorby‐Adams +14 more
wiley +1 more source
A user-driven consent platform for health data sharing in digital health applications. [PDF]
Brückner S +8 more
europepmc +1 more source
Verbal consent for telephone interview.
Amelia Burke-Garcia (21001400) +7 more
openalex +1 more source
ABSTRACT Objective To compare the effectiveness and safety of tenecteplase (TNK) versus alteplase (TPA) in patients with basilar artery occlusion prior to endovascular treatment (EVT). Methods In this retrospective multicenter study (BAO‐TNK), we analyzed consecutive BAO patients from 14 U.S.
Rahul R. Karamchandani +38 more
wiley +1 more source
De Garengeot hernia presenting with acute appendicitis: a rare dual pathology and surgical challenge: a case report. [PDF]
Aljohani E.
europepmc +1 more source
Network Localization of Fatigue in Multiple Sclerosis
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo +12 more
wiley +1 more source
Evolving ethos of medical research: A retrospective analysis of the declaration of Helsinki (1964-2024). [PDF]
Liau JYJ, Shelat VG.
europepmc +1 more source

