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Metabolic Brain Disease
|
June 17, 2016
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1
Shwetha Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, et al.
Journal of Neurochemistry
|
September 11, 2023
Neuroanatomical zones of human traumatic brain injury reveal significant differences in protein profile and protein oxidation: Implications for secondary injury events
Niya Gowthami, Nithya Pursotham, Gourav Dey, et al.
Journal of Proteomics
|
October 27, 2019
Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle
B Sunitha, Manish Kumar, Niya Gowthami, et al.
Investigative Ophthalmology & Visual Science
|
May 16, 2013
Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, et al.
Multiple Sclerosis and Related Disorders
|
January 23, 2018
Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Parayil Sankaran Bindu, Kothari Sonam, Shwetha Chiplunkar, et al.
Investigative Ophthalmology & Visual Science
|
August 3, 2017
Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, et al.
Metabolic Brain Disease
|
April 5, 2017
Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency
Shwetha Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, et al.
Neuromuscular Disorders : NMD
|
August 22, 2021
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions
Le Guo, Periyasamy Govindaraj, Mariëlle Kievit, et al.
European Journal of Neurology
|
October 30, 2020
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations
Shamita Sanga, Arnab Ghosh, Krishna Kumar, et al.
Mitochondrion
|
November 10, 2016
Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 45) with videos related to
Sort By:
Page
of 5
Metabolic Brain Disease
|
June 17, 2016
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1
Shwetha Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, et al.
Journal of Neurochemistry
|
September 11, 2023
Neuroanatomical zones of human traumatic brain injury reveal significant differences in protein profile and protein oxidation: Implications for secondary injury events
Niya Gowthami, Nithya Pursotham, Gourav Dey, et al.
Journal of Proteomics
|
October 27, 2019
Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle
B Sunitha, Manish Kumar, Niya Gowthami, et al.
Investigative Ophthalmology & Visual Science
|
May 16, 2013
Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, et al.
Multiple Sclerosis and Related Disorders
|
January 23, 2018
Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Parayil Sankaran Bindu, Kothari Sonam, Shwetha Chiplunkar, et al.
Investigative Ophthalmology & Visual Science
|
August 3, 2017
Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, et al.
Metabolic Brain Disease
|
April 5, 2017
Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency
Shwetha Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, et al.
Neuromuscular Disorders : NMD
|
August 22, 2021
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions
Le Guo, Periyasamy Govindaraj, Mariëlle Kievit, et al.
European Journal of Neurology
|
October 30, 2020
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations
Shamita Sanga, Arnab Ghosh, Krishna Kumar, et al.
Mitochondrion
|
November 10, 2016
Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, et al.
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