Výsledky vyhledávání - Balasubramaniem Ashokkumar
- Zobrazuji výsledky 1 - 5 z 5
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A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function Autor Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botía, Mina Ryten, Jana Vandrovcová, Oscar D. Bello, Conceição Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden
Vydáno 2017Artigo -
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Mitochondrial impairment and rescue in riboflavin responsive neuropathy Autor Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Amelie Pandraud, Vincenzo Salpietro, Simon Pope, Marthe H. R. Ludtmann, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden
Vydáno 2017Pré-impressão -
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy Autor Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Medicine
Biochemistry
Genetics
Anatomy
Atrophy
Frameshift mutation
Mitochondrial DNA
Mitochondrial disease
Mitochondrion
Mutation
Pathology
Riboflavin
Amyotrophic lateral sclerosis
Axoplasmic transport
Brainstem
Cancer
Cancer cell
Cell biology
Chemistry
Cofactor
DEAD box
Disease
Embryo
Endocrinology
Enzyme
Flavin adenine dinucleotide
Flavin group
Flavin mononucleotide