Results 71 to 80 of about 493 (108)

Epigenomic and clinical analyses of striatal DAT binding in healthy individuals reveal well-known loci of Parkinson's disease. [PDF]

Heliyon
Yaghoobi A, Seyedmirzaei H, Jamaat M, Ala M.   +3 more
europepmc   +1 more source

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing. [PDF]

Genes (Basel)
Chałupczyńska B, Ciara E, Halat-Wolska P, Pollak A, Stawiński P, Jurkiewicz D, Piekutowska-Abramczuk D, Gawlik M, Pietrasik J, Cieślikowska A, Wicher D, Ulatowska A, Jedlińska D, Borkowska J, Chmielewski D, Dunin-Wąsowicz D, Kotulska-Jóźwiak K, Chrzanowska K, Madej-Pilarczyk A.   +18 more
europepmc   +1 more source

Lipofuscinose Ceroide Neuronal LCN14 –tipo 14 em paciente infantil: um relato de caso

Introdução: A Lipofuscinose Ceróide Neuronal tipo 14 (LCN14) é uma das formas mais raras entre as lipofuscinoses, com poucos registros na literatura.
Oliveira, Alex Alencar de, Prazeres, Vania Mesquita Gadelha, Marciāo, Waleska Affonso Salignac   +2 more
core  

MassIVE Reanalysis RMSV000000355.3038 - CCMS MassIVE Knowledge Base (MassIVE-KB) MS-GF+ reanalysis of Bioplex AP-MS Dataset for Library Construction, KCTD7 [launched by aea60c3352304ba6ab67140f655b6785]

, 2022
CCMS
core   +1 more source

<i>WBSCR</i> Locus: At the Crossroads of Human Behavioral Disorders and Domestication of Animals. [PDF]

Int J Mol Sci
Shepelev MV, Skobel OI, Glazko TT, Popov DV, Vysotskii DE, Georgiev PG, Maksimenko OG, Kosovsky GY, Silaeva YY.   +8 more
europepmc   +1 more source

Multiple system atrophy is associated with brain somatic mutations in clonal hematopoiesis genes

Thompson B, Horner D, Morley C, Gustavsson E, Jaunmuktane Z, Proukakis C.   +5 more
europepmc   +1 more source

Pathological and Molecular Insights into the Early Stage of Multiple System Atrophy. [PDF]

Cells
Tanaka MT, Miki Y, Kon T, Mori F, Wakabayashi K.   +4 more
europepmc   +1 more source

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Metz, Kyle A,; Teng, Xinchen,; Coppens, Isabelle,; Lamb, Heather M,; Wagner, Bart E,; Rosenfeld, Jill A,; Chen, Xianghui,; Zhang, Yu,; Kim, Hee Jong,; Meadow, Michael E,; Wang, Tim Sen,; Haberlandt, Edda D,; Anderson, Glenn W,; Leshinsky‐Silver, Esther,; Bi, Weimin,; Markello, Thomas C,; Pratt, Marsha,; Makhseed, Nawal,; Garnica, Adolfo,; Danylchuk, Noelle R,; Burrow, Thomas A,; Jayakar, Parul,; McKnight, Dianalee,; Agadi, Satish,; Gbedawo, Hatha,; Stanley, Christine,; Alber, Michael,; Prehl, Isabelle,; Peariso, Katrina,; Ong, Min Tsui,; Mordekar, Santosh R,; Parker, Michael J,; Crooks, Daniel,; Agrawal, Pankaj B,; Berry, Gerard T,; Loddenkemper, Tobias,; Yang, Yaping,; Maegawa, Gustavo HB,; Aouacheria, Abdel,; Markle, Janet G,; Wohlschlegel, James A,; Hartman, Adam L,; Hardwick, J Marie,
core   +4 more sources

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics. [PDF]

Front Genet
Nicolaou P.
europepmc   +1 more source

Genetics of epilepsy. [PDF]

Exp Biol Med (Maywood)
Piacentini K, Gaitatzis A, Kõks S.
europepmc   +1 more source