Results 191 to 200 of about 259,911 (265)

Beta activity reflects change in upper limb activity rather than impairment following high-dose high-intensity upper limb neurorehabilitation in chronic stroke

Zich C, Sporn S, Triccas LT, Omana MCI, Bestmann S, Ward NS.   +5 more
europepmc   +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, EarlyView.
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

Hybrid therapy for acute upper limb ischaemia with thoracic outlet syndrome: a case report. [PDF]

Eur Heart J Case Rep
Koyama E, Tobita K, Kai M, Mityashita H, Saito S.   +4 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

The Clean Pass: Upper Limb Impalement with Complete Neurovascular Preservation. [PDF]

J Orthop Case Rep
Shetty RS, Agarwal AA, Yadav SA, Meena P, Mandal S, Rai CR.   +5 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Robot-Assisted Therapy for Upper Limb Rehabilitation After Stroke: Umbrella Review. [PDF]

J Med Internet Res
Liu S, Zhang X, Zhou L, Zhang J, Liu J, He C.   +5 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Brachial artery cannulation for right upper limb ischemia secondary to acute type A aortic dissection. [PDF]

J Surg Case Rep
Al-Hakim D, Groenewoud R, Udwadia F, Chen J, Kim JM.   +4 more
europepmc   +1 more source

A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis. [PDF]

J Peripher Nerv Syst
Hamedani M, Prada V, Massucco S, Roveta E, Grandis M, Gemelli C, Schiavetti I, Signori A, Schenone C, Luigetti M, Guglielmino V, Sciarrone MA, Vitali F, Pradotto LG, Manganelli F, Tozza S, Palumbo G, Mazzeo A, Gentile L, Russo M, Luca M, D'Arma F, Pisciotta C, Fenu S, Pareyson D, Schenone A.   +25 more
europepmc   +1 more source