Results 231 to 240 of about 72,100 (305)

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

Ultra High‐Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross‐Sectional Study

open access: yesMuscle &Nerve, Volume 73, Issue 5, Page 867-874, May 2026.
ABSTRACT Introduction/Aims Transthyretin amyloidosis (ATTR), including hereditary (hATTR) and wild‐type (wtATTR), often presents initially as carpal tunnel syndrome (CTS), often preceding systemic symptoms by several years. Ultra high‐resolution ultrasound (UHRUS) offers detailed visualization of peripheral nerve morphology, but its application in ATTR‐
Rachana K. Gandhi Mehta   +4 more
wiley   +1 more source

Long‐Term Speech Outcomes in Moderate‐to‐Severe Childhood Speech Sound Disorder: A Systematic Review

open access: yesInternational Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.
ABSTRACT Background Parents of children with moderate‐to‐severe speech sound disorder presenting to clinic want to understand prognosis for their child; however, there is unclear evidence as to the specific long‐term speech outcomes in this group.
Alexandra J. Garrett   +2 more
wiley   +1 more source

Object Reduction in Aleut [PDF]

open access: yes, 2013
Berge, Anna
core  

Processing effects of L1/L2 from L3 in translation recognition paradigm: an exploratory ERP study. [PDF]

open access: yesFront Psychol
Zhaksylykkyzy K   +4 more
europepmc   +1 more source

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