Results 221 to 230 of about 2,231,714 (417)

Genetic mapping of the mouse c-fms proto-oncogene to chromosome 18 [PDF]

, 1988
M D Hoggan, N F Halden, Charles E. Buckler, Christine A. Kozak   +3 more
openalex   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus. [PDF]

, 1983
Peter S. Linsley, N. Torben Bech‐Hansen, Louis Siminovitch, D W Cox   +3 more
openalex   +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

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Genetic analysis and molecular mapping of the purple leaf sheath in barley (Hordeum vulgare). [PDF]

Plant Genome
Mewa DB, Caspersen A, Fiedler JD, Hu G, Gao D.   +4 more
europepmc   +1 more source

Isolation and mapping of a polymorphic DNA sequence (pMCT32.1) on chromosome 3 [D3S31]

, 1988
M. Carlson, Yusuke Nakamura, K. Krapcho, P. OʼConnell, M. Leppert, G.M. Lathrop, J.-M. Lalouel, R. White   +7 more
openalex   +2 more sources

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Genetic mapping of loci associated with yield and their components in black common bean (Phaseolus vulgaris L.). [PDF]

Plant Genome
Reche DL, Gonçalves-Vidigal MC, Vidigal Filho PS, Vaz Bisneta M, Lacanallo GF, Santos AABD, Santos APD.   +6 more
europepmc   +1 more source

Isolation and mapping of a polymorphic DNA sequence pRMU3 on chromosome 17q [D17S24] [PDF]

, 1988
R. Myers, Yusuke Nakamura, L. Ballard, M. Leppert, P. O’Connell, G.M. Lathrop, J.-M. Lalouel, R. White   +7 more
openalex   +1 more source