Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Susan Blaser"'
Autor:
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelinatio
Externí odkaz:
https://doaj.org/article/3f6584a19f4b41cfbb1ed508918c473a
Autor:
Youjin Oh, Grace Yoon, Michael Maier, Bruno Reversade, Jessie Cameron, Susan Blaser, Cynthia Hawkins
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101168- (2024)
Externí odkaz:
https://doaj.org/article/0c3457b103b34492827f462dbb0b1338
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101004- (2023)
Background: Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) is a treatable neurometabolic condition associated with pathogenic variants in the SLC19A3 gene. The classical childhood-onset phenotype presents at a mean age of 4 years, ranging f
Externí odkaz:
https://doaj.org/article/14b34b12ac8d44b583138201c7ae3b51
Publikováno v:
Journal of International Advanced Otology, Vol 18, Iss 2, Pp 139-144 (2022)
Externí odkaz:
https://doaj.org/article/38e4c2d04b33405a96cf388221166d67
Autor:
Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 3-10 (2020)
Abstract Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl‐tRNA synthetase deficiencies diagnosed in a sing
Externí odkaz:
https://doaj.org/article/1dc2dec5e0894b1488610e5e3b2c5e5a
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
Autor:
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 20-30 (2019)
Abstract Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test result
Externí odkaz:
https://doaj.org/article/0383875aff7a477e9ade7a07c003e017
Autor:
Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound he
Externí odkaz:
https://doaj.org/article/d01804508d9f4013b7635980e96e72a8
Autor:
Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100664- (2020)
Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequen
Externí odkaz:
https://doaj.org/article/76af2b15e588423da2db6e45d3ab2e6e
Autor:
Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 11-13 (2019)
Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonat
Externí odkaz:
https://doaj.org/article/4337e68bd2ac44b78f7aa01eb83d7a5a
Publikováno v:
CHIMIA, Vol 68, Iss 4 (2014)
The picosecond (ps) timescale is relevant for the investigation of many molecular dynamical processes such as fluorescence, nonradiative relaxation, intramolecular vibrational relaxation, molecular rotation and intermolecular energy transfer, to name
Externí odkaz:
https://doaj.org/article/98cb4fc716d046948f908cb6c7c55a5c