Results 281 to 290 of about 11,121,866 (385)

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Genome-wide identification and expression patterns of the aspartic protease gene family in Epimedium pubescens. [PDF]

BMC Genomics
Zheng H, Zheng L, Song H, Yu X.
europepmc   +1 more source

The NLR gene family: a standard nomenclature.

Immunity, 2008
J. Ting, R. Lovering, E. Alnemri, J. Bertin, J. Boss, B. Davis, R. Flavell, S. Girardin, A. Godzik, J. Harton, H. Hoffman, J. Hugot, N. Inohara, A. MacKenzie, L. Maltais, G. Núñez, Y. Ogura, L. Otten, D. Philpott, John Calvin Reed, W. Reith, S. Schreiber, V. Steimle, P. Ward   +23 more
semanticscholar   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Identification and Functional Exploration of the <i>ALKBH</i> Gene Family in Oriental Melon Fruit Ripening. [PDF]

Int J Mol Sci
Zhang C, Guo X, Zhang Y, Pang H, Chen Q.
europepmc   +1 more source

Ethylene Responses Are Negatively Regulated by a Receptor Gene Family in Arabidopsis thaliana

Cell, 1998
J. Hua, E. Meyerowitz
semanticscholar   +1 more source

Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi, Carla Franch‐Marti, Iñigo Ruiz‐Barrio, Frederic Sampedro, Jesus Perez‐Perez, Jordi A. Matias‐Guiu, Fernando Cuetos, Gonzalo Olmedo‐Saura, Laura Perez‐Carasol, Andrea Horta‐Barba, Ignacio Aracil‐Bolaños, Javier Pagonabarraga, Jaime Kulisevsky, Saul Martinez‐Horta   +13 more
wiley   +1 more source

Comprehensive Genome-Wide Investigation and Transcriptional Regulation of the bZIP Gene Family in Litchi Fruit Development. [PDF]

Plants (Basel)
Liu J, Silaiyiman S, Wu J, Ouyang L, Cao Z, Shen C.   +5 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Genome-Wide Analysis and Expression Profiling of the JAZ Gene Family in Response to Abiotic Stress in Alfalfa. [PDF]

Int J Mol Sci
Li X, Bashir A, Yang H, Abbas A, Li Y, Zeng X, Zhu L, Shi Q, Tursunniyaz M, Zhang L.   +9 more
europepmc   +1 more source