Results 141 to 150 of about 139,667 (256)

Short-and long-latency afferent inhibition of the human leg motor cortex by H-reflex subthreshold electrical stimulation at the popliteal fossa. [PDF]

Exp Brain Res, 2023
Kato T, Sasaki A, Nakazawa K.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Neurophysiological Assessment of H-Reflex Alterations in Compressive Radiculopathy. [PDF]

Physiol Res
Šádek P, Hrušková E, Ostrý S, Otáhal J.   +3 more
europepmc   +1 more source

Location In Vivo of the Innervation Zone in the Human Medial Gastrocnemius Using Imposed Contractions: A Comparison of the Usefulness of the M-Wave and H-Reflex. [PDF]

J Funct Morphol Kinesiol, 2022
Guzmán-Venegas RA, Palma-Traro FH, Valencia OD, Hudson MJ, Pincheira PA.   +4 more
europepmc   +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, EarlyView.
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 Relationship Between Soleus H-Reflex Following Standing GVS and Postural Control Responses on Firm and Foam Surfaces: An Exploratory Study. [PDF]

Brain Sci
Mitsutake T, Taniguchi T, Nakazono H, Shiozaki T, Yoshizuka H, Sakamoto M.   +5 more
europepmc   +1 more source

Reduced wrist flexor H-reflex excitability is linked with increased wrist proprioceptive error in adults with cerebral palsy. [PDF]

Front Neurol, 2022
Dukkipati SS, Walker SJ, Trevarrow MP, Busboom M, Baker SE, Kurz MJ.   +5 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Impaired rate-dependent depression of the H-reflex in type-2 diabetes, prediabetes, overweight and obesity: A cross-sectional study. [PDF]

Medicine (Baltimore), 2022
Salinas LF, Trujillo-Condes VE, Tecuatl C, Delgado-Lezama R, Cuellar CA.   +4 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source