Results 231 to 240 of about 71,305 (285)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review. [PDF]

J Clin Med
Smółka KA, Smółka L, Guz W, Chaber E, Perenc L.   +4 more
europepmc   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Calcaneo-Cuboid-Cuneiform Osteotomy for the Treatment of Planovalgus Feet in Patients with Spastic Cerebral Palsy. [PDF]

JBJS Essent Surg Tech
Sagade BS, Agashe MV.
europepmc   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

Minimal changes in excitation-contraction coupling in spastic human muscle. [PDF]

J Neurophysiol
Wang Z, Hoffman EM, Litchy WJ, Shin AY, Rhee PC, Kaufman KR, Lieber RL.   +6 more
europepmc   +1 more source

The impact of the timing of spinal decompression on urinary and sexual function after acute spinal cord injury

BJUI Compass, Volume 7, Issue 2, February 2026.
Abstract Introduction While earlier decompression after spinal cord injury (SCI) is linked to better motor recovery, its impact on bladder and sexual function remains unexplored. Our objective was to determine if time to surgical decompression is associated with bladder and sexual function.
Matthew Playfair, J. Andrew McClure, Chris Bailey, Blayne Welk   +3 more
wiley   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Population pharmacokinetic modelling revealed large variability in oromucosal absorption of Δ9‐tetrahydrocannabinol in older patients with poor appetite

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 504-514, February 2026.
Aim Cannabis‐based medicines are gaining interest and being explored for new therapeutic indications, many of which commonly affect older medical patients. As most previous studies of the population pharmacokinetics of cannabinoids have been performed in healthy adults, this study aimed to investigate the population pharmacokinetics of Δ9 ...
Ida Klitzing Storgaard, Rikke Lundsgaard Nielsen, Morten Baltzer Houlind, Olivia Bornæs, Louise Westberg Strejby Christensen, Aino Leegaard Andersen, Helle Gybel Juul‐Larsen, Lillian Mørch Jørgensen, Torben Breindahl, Baker Nawfal Jawad, Izzet Altintas, Ove Andersen, Trine Meldgaard Lund   +12 more
wiley   +1 more source

Advancements in Understanding Spasticity: A Neuromusculoskeletal Modeling Perspective. [PDF]

J Clin Med
Shourijeh MS, Stampas A, Chang SH, Korupolu R, Francisco GE.   +4 more
europepmc   +1 more source