Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Asuri N. Prasad"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundEarly-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase (NAXE)
Externí odkaz:
https://doaj.org/article/7b2cbf5177b0492eafc118dc319b95a3
Autor:
Julia Macintosh, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Kether Guerrero, Chitra Prasad, Asuri N. Prasad, Tomi Pastinen, Isabelle Thiffault, Benoit Coulombe, Geneviève Bernard
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describ
Externí odkaz:
https://doaj.org/article/29e8d5ae09184e7c941a524a3255f883
Autor:
Montaha Almudhry, Asuri N. Prasad, C. Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Chitra Prasad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient wi
Externí odkaz:
https://doaj.org/article/77688a34b6584fefa2932cfdf9d1af5f
Autor:
Klajdi Puka, Karen Bax, Andrea Andrade, Margo Devries-Rizzo, Hema Gangam, Simon Levin, Maryam N. Nouri, Asuri N. Prasad, Mary Secco, Guangyong Zou, Kathy N. Speechley
Publikováno v:
Trials, Vol 21, Iss 1, Pp 1-19 (2020)
Abstract Background Epilepsy extends far beyond seizures; up to 80% of children with epilepsy (CWE) may have comorbid cognitive or mental health problems, and up to 50% of parents of CWE are at risk for major depression. Past research has also shown
Externí odkaz:
https://doaj.org/article/77cc8c1fb8ae4a11959d6887760a0e27
Autor:
Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance
Externí odkaz:
https://doaj.org/article/552b48ccc969443b9db8207a45c133aa
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures
Autor:
Ping Yang, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie, Joan H. Knoll, Asuri N. Prasad
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objectives: Mutations in the STXBP1 gene have been associated with epileptic encephalopathy. Previous studies from in vitro neuroblastoma 2A cells showed that haploinsufficiency of STXBP1 is the mechanism for epileptic encephalopathy. In this ex vivo
Externí odkaz:
https://doaj.org/article/da46ec063ea14ad8a0773b69a0d03ae2
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:
Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N. Prasad, Akshya Vasudev, Andrew Mantulak, Beth K. Potter, Chitra Prasad
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100654- (2020)
Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-p
Externí odkaz:
https://doaj.org/article/41c949a39deb40ee8fd9e6c3de716c33
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 64-69 (2016)
m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In
Externí odkaz:
https://doaj.org/article/c62196c5a05d405ab4619fdf91aca69c
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 41-42 (2016)
Externí odkaz:
https://doaj.org/article/0ca7f2d6e6a246eb8bdb4acc0d8e3fcd