Results 51 to 60 of about 297,007 (186)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Distribution of Foot Arch Type and Associated Symptoms in Medical Students at Faculty of Medicine, Thammasat University

Siriraj Medical Journal
Objective: To determine the distribution of foot arch type, associated symptoms, and factors associated with moderate to severe pain Materials and Methods: The cross-sectional study was collected data from 5th year medical students, Faculty of ...
Siranya Paecharoen, Thanutchaporn Kritsanapraneet   +1 more
doaj   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

The effect of functional fatigue on dynamic balance in girl students with different plantar arch [PDF]

Sport Sciences and Health Research, 2014
The purpose of this study was the effect of functional fatigue dynamic balance in girl students with different plantar arch. To measure the subjects' foot arch was used the navicular drop test.
Forough Moeini, Azar Aghayari, Seyed Hamed Mousavi   +2 more
doaj   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

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

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  

Paediatric flat foot and foot dimension in Central Anatolia

BMC Pediatrics, 2021
Background Information on the foot structures of Central Anatolian children is limited. Foot structures of children aged 6–10 years were shown to be different according to sex and increasing age.
Serap Alsancak, Senem Guner, Enver Güven, Ali Koray Özgün, Yunis Akkaş, Neslihan Alkıs   +5 more
doaj   +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