Results 161 to 170 of about 27,991 (256)

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1316-1324, September 2026.
This original article is commented on by Domínguez‐Carral and Ortigoza‐Escobar on pages 1182–1183 of this issue. Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry.
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

VRK1‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Introduction Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with ...
Manoella Guerra de Albuquerque Bueno, Diogo Fernandes dos Santos, Alexander M. Rossor, Matilde Laura, Alejandro Horga, Rodrigo Siqueira Soares Frezatti, Eduardo Vaz de Sousa Ferreira, Julian C. Blake, Jasper M. Morrow, Mary M. Reilly, Wilson Marques Júnior, Pedro José Tomaselli   +11 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Factors Associated With Postsurgical Pain in Children and Adolescents With Cognitive Dysfunction

Journal of Clinical Nursing, Volume 35, Issue 9, Page 3794-3804, September 2026.
ABSTRACT Aim To describe the characteristics of paediatric postoperative patients with cognitive dysfunction and assess the prevalence of pain and associated factors. Desing A descriptive observational study. Methods Cross‐sectional study in children and adolescents who had undergone surgery in the previous 72 h with cognitive dysfunction impeding ...
Débora Sierra‐Núñez, Alejandro Bosch‐Alcaraz, Sandra Parada‐Almansa, Mónica Castro‐Fernández, Susana Asensio‐Sales, Daniel Gracia‐Martínez, Anna Falcó‐Pegueroles, Mª. Ángeles Saz‐Roy, Esperanza Zuriguel‐Pérez   +8 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Interventions for managing skeletal muscle spasticity following traumatic brain injury. [PDF]

Cochrane Database Syst Rev, 2017
Synnot A, Chau M, Pitt V, O'Connor D, Gruen RL, Wasiak J, Clavisi O, Pattuwage L, Phillips K.   +8 more
europepmc   +1 more source

NMES‐Facilitated Mandibular Rehabilitation for Spasticity‐Related Trismus in ALS

Muscle &Nerve, Volume 74, Issue 3, Page 747-750, September 2026.
Kelly Salmon, Hristelina Ilieva, Daniel Kelly   +2 more
wiley   +1 more source

Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1733-1735, August 2026.
ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman, Niyati Bhandari, Maria Castellaro, Kim Schadt, María Cancio, David R. Lynch   +5 more
wiley   +1 more source

Association between spasticity of the hip and development of hip displacement in children: a cohort study of 786 hips. [PDF]

Acta Orthop
Bakhtiyar M, Iljazi A, Odgaard A, Wong C, Petersen MM, Balslev-Clausen A.   +5 more
europepmc   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source