Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Smith-Fine A"'
Autor:
Olivia Kim-McManus, Joseph G. Gleeson, Laurence Mignon, Amena Smith Fine, Winston Yan, Nicole Nolen, Scott Demarest, Elizabeth Berry-Kravis, Richard Finkel, Stefanie Leonard, Samuel Finlayson, Erika Augustine, Gholson J. Lyon, Rebecca Schule, Timothy Yu
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-5 (2024)
Abstract Individualized genetic therapies—medicines that precisely target a genetic variant that may only be found in a small number of individuals, as few as only one—offer promise for addressing unmet needs in genetic disease, but present uniqu
Externí odkaz:
https://doaj.org/article/d09e0d96a7a24a5591836fda1643ffe2
Autor:
Amena Smith Fine, Miriam Kaufman, Jordan Goodman, Bela Turk, Amy Bastian, Doris Lin, Ali Fatemi, Jennifer Keller
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 4, Pp 468-477 (2022)
Abstract Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare leukodystrophy with motor impairment due to biallelic mutations in DARS2, which encodes mitochondrial aspartyl tRNA synthetase.
Externí odkaz:
https://doaj.org/article/f0ac7fb2c0f442e9ba7dbf11b00933e1
Autor:
Kim-McManus, Olivia, Gleeson, Joseph G., Mignon, Laurence, Smith Fine, Amena, Yan, Winston, Nolen, Nicole, Demarest, Scott, Berry-Kravis, Elizabeth, Finkel, Richard, Leonard, Stefanie, Finlayson, Samuel, Augustine, Erika, Lyon, Gholson J., Schule, Rebecca, Yu, Timothy
Publikováno v:
Nature Communications; 11/12/2024, Vol. 15 Issue 1, p1-5, 5p
Autor:
Yska, Hemmo A. F., Turk, Bela R., Fatemi, Ali, Goodman, Jordan, Voermans, Marije, Amos, Dan, Amanat, Man, van de Stadt, Stephanie, Engelen, Marc, Smith‐Fine, Amena, Keller, Jennifer
Publikováno v:
Journal of Inherited Metabolic Disease; Nov2024, Vol. 47 Issue 6, p1336-1347, 12p
Publikováno v:
Pharmaceutics, Vol 14, Iss 11, p 2389 (2022)
Antisense oligonucleotides (ASOs) are disease-modifying agents affecting protein-coding and noncoding ribonucleic acids. Depending on the chemical modification and the location of hybridization, ASOs are able to reduce the level of toxic proteins, in
Externí odkaz:
https://doaj.org/article/b2f7ef0c50ed499185f18272876ba343
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, cli
Externí odkaz:
https://doaj.org/article/7ca3c8f0f7e1417da7bb60e3a2e38c0b
Autor:
Smith Fine, Amena1 (AUTHOR), Kaufman, Miriam1 (AUTHOR), Goodman, Jordan1 (AUTHOR), Turk, Bela1 (AUTHOR), Bastian, Amy2 (AUTHOR), Lin, Doris3 (AUTHOR), Fatemi, Ali1 (AUTHOR), Keller, Jennifer2 (AUTHOR) keller@kennedykrieger.org
Publikováno v:
Annals of Clinical & Translational Neurology. Apr2022, Vol. 9 Issue 4, p468-477. 10p.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by the mutations in the DARS2 gene, which encodes the mitochondrial aspartyl-tRNA synthetase. The objective of this st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::153f4cc14231724a464710c0d303d8e5
https://doi.org/10.21203/rs.3.rs-2603446/v1
https://doi.org/10.21203/rs.3.rs-2603446/v1
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Autor:
Amena Smith Fine, Miriam Kaufman, Jordan Goodman, Bela Turk, Amy Bastian, Doris Lin, Ali Fatemi, Jennifer Keller
Publikováno v:
Annals of clinical and translational neurology. 9(4)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare leukodystrophy with motor impairment due to biallelic mutations in DARS2, which encodes mitochondrial aspartyl tRNA synthetase. Progressive ataxia i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed80c3f880b0a088594cbad2350846b
https://pubmed.ncbi.nlm.nih.gov/35257509
https://pubmed.ncbi.nlm.nih.gov/35257509