Results 51 to 60 of about 67,922 (183)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Modulation of Lower Limb Biomechanics and Muscle Activation by Midsole Hardness in Children During Running

Journal of Foot and Ankle Research, Volume 19, Issue 3, September 2026.
ABSTRACT Introduction Children's developing musculoskeletal systems are highly sensitive to mechanical stimuli. This study investigated the effects of running shoe midsole hardness (MH) (soft midsole [SM], medium midsole [MM], and hard midsole [HM]) on lower‐limb biomechanics and muscle activation during the running stance phase in children.
Zhaolong Ye, Bojie Xuan, Fengping Li, Kuiyu Chen, Yiyao Chen, Zhanyi Zhou, Diwei Chen, Dongxu Wang, Xuanzhen Cen, Yufei Li, Dong Sun, Gusztáv Fekete, Danica Janicijevic, Yang Song, Yaodong Gu   +14 more
wiley   +1 more source

Instantaneous Effect of Insole on the Balance of Adolescents With Flat Foot and Pes Cavus

Biyumikānīk-i varzishī, 2020
Objective: The purpose of this study was to examine the instantaneous effect of insole on the balance of adolescents with flat foot and Pes Cavus. Methods: In this quasi-experimental study, 34 adolescents with flat foot and Pes Cavus (17 girls and 17 ...
Ali Fattahi, Zahra Koreili, Mitra Ameli
doaj  

Static analysis of plantar pressures and kinetic parameters in pes cavus versus normal feet: a case–control study

Frontiers in Physics
BackgroundAt least 10% of the population has cavus feet. This type of foot, characterized by a high medial arch, is usually accompanied by muscle imbalances, calluses, and pain in the hindfoot, lateral column, and forefoot.
Lucía Martínez-Salvador, Helena Silva-Migueis, Ricardo Becerro-de-Bengoa-Vallejo, Marta Losa-Iglesias, Javier Bayod-López, Israel Casado-Hernández, Juan Gómez-Salgado, Juan Gómez-Salgado, Daniel López-López   +8 more
doaj   +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

The Effect of Three Foot Types on the Achilles Tendon Lever Arm

Foot & Ankle Orthopaedics, 2018
Category: Hindfoot Introduction/Purpose: During locomotion, propulsion of the body is created by the force of the triceps surae complex as it is transmitted to the metatarsal heads.
Manja Deforth MSc, Lukas Zwicky MSc, Tamara Horn Lang PhD, Beat Hintermann MD   +3 more
doaj   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

The Comparison of Dynamic Balance in Males with Different Foot Types [PDF]

Sport Sciences and Health Research, 2011
The aim of this study was to compare the dynamic balance in men with different foot types. A sample of 90 male students from University of Tehran including 30 subjects with normal foot type (mean height: 176.6±6.2 cm, mean weight: 72.8±10.2 kh, mean age ...
vahid ghasemi, reza rajabi, mohammadhosein alizadeh, komail Dashti Rostami   +3 more
doaj  

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