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Manoj P Menezes

Showing results (61-70 of 68) with videos related to

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Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Nature Genetics|May 1, 2012
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationJijun Wan, Michael Yourshaw, Hafsa Mamsa, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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