Results 311 to 320 of about 1,506,824 (383)

A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function. [PDF]

Animals (Basel)
Zhao Z, Yang Y, Liu P, Yan T, Li R, Pan C, Li Y, Lan X.   +7 more
europepmc   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

A missense mutation in human INSC causes peripheral neuropathy. [PDF]

EMBO Mol Med
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC.   +16 more
europepmc   +1 more source

Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene

, 1997
P. Knudsen, Marjatta Antikainen, Mikko Uusi‐Oukari, Sonja Ehnholm, Sanni Lahdenperä, André Bensadoun, Harald Funke, Heiko Wiebusch, Gerd Assmann, Marja‐Riitta Taskinen, Christian Ehnholm   +10 more
openalex   +1 more source

Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Gain‐of‐kinase‐function variants in LRRK2 are a leading cause of monogenic Parkinson's disease (PD). Objectives We tested the functional impact of a novel LRRK2 variant p.V1447L identified in a young‐onset PD patient in vivo in peripheral blood, as well as in a robust cellular assay, alongside other variants in close proximity to ...
Neringa Pratuseviciute, Pawel Lis, Sacha Weber, Nicolas Gruchy, Lionel Arnaud, Dario R. Alessi, Esther Sammler   +6 more
wiley   +1 more source

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH. [PDF]

Front Genet
Liu Y, Fan X, Qian K, Wu C, Zhang L, Yuan L, Man Z, Wu S, Li P, Wang X, Li W, Zhang Y, Sun S, Yu C.   +13 more
europepmc   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

A novel missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family. [PDF]

Asian J Androl
Ahmad N, Yang ML, Zeb A, Zhou JT, Zubair M, Abbas T, Jiang XH, Zhang YW, Zhang H, Shah W, Shi QH.   +10 more
europepmc   +1 more source

A complete deficiency of coagulation factor XIII A‐subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation

, 1999
Toshiyuki Niiya, Haruhiko Osawa, Shiro Bando, Yoshiko Oto, Kiriko Tokuda, Namiko Takeda, Maki Sumioka, Mitsuharu Murase, Kaichi Kida, Hideichi Makino   +9 more
openalex   +1 more source

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucy Dougherty‐de Miguel, Julia Ferrero‐Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno‐Galdó, Maria I. Vanegas, Marta Correa‐Vela, María Victoria González, Gemma Español‐Martín, Martha Loredo, Ignacio Delgado, Esther Toro‐Tamargo, Margarita Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, Agustí Bescós, Belén Pérez‐Dueñas   +23 more
wiley   +1 more source