Results 201 to 210 of about 1,974,559 (294)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Surgery versus Botulinum Toxin A for Treatment of Post-Stroke Upper-Limb Spasticity: White Matter Changes, Function, and Quality-of-Life—A Randomized Controlled Trial

Neural Plasticity
Patricia Hurtado-Olmo, Pedro Hernández-Cortés, Ángela González-Santos, Clarisa Simón-Pérez, Laura Del Olmo-Iruela, Andrés Catena   +5 more
doaj   +1 more source

Criterion Validity of Wrist-Worn IMU-Derived Smoothness Metrics During Functional Upper-Limb Tasks. [PDF]

Bioengineering (Basel)
Cerfoglio S, Donno L, Lovato M, Francia C, Galli M, Cimolin V.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Supporting upper limb movements with a soft robot after a brachial plexus injury. [PDF]

Nat Commun
Ferroni R, Aglietta V, Mauceri DF, Carpaneto J, Micera S, Titolo P, Proietti T.   +6 more
europepmc   +1 more source

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

Upper limb prostheses: a narrative review of hand, wrist, and elbow devices. [PDF]

Front Rehabil Sci
Fricano A, Viva MG, Vetrano M, Paoloni M, Giannicola G, Agostini F, Galeoto G, Nusca SM, Panuccio F, Gennarelli I, Murgia M, Mangone M.   +11 more
europepmc   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes, Lukas Henning, Karen M. J. van Loo, Rainer Surges, Susanne Schoch, Albert J. Becker, Julika Pitsch   +6 more
wiley   +1 more source

Behavioral Smartphone Orientation Is Associated with Upper Limb Dysfunction Among University Students: A Cross-Sectional Study. [PDF]

J Clin Med
Szukalska I, Kempinska-Podhorodecka A, Szczuko M.   +2 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source