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Kevin B Boylan

Showing results (21-30 of 50) with videos related to

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American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
American Journal of Human Genetics|May 26, 2015
Jump from pre-mutation to pathologic expansion in C9orf72Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, et al.
Acta Neuropathologica|September 1, 2014
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stressYong-Jie Zhang, Karen Jansen-West, Ya-Fei Xu, et al.
The Lancet. Neurology|September 10, 2013
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, et al.
Acta Neuropathologica|May 7, 2015
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron diseaseCyril Pottier, Kevin F Bieniek, NiCole Finch, et al.
Nature Neuroscience|January 10, 2018
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTDChing-Chieh Chou, Yi Zhang, Mfon E Umoh, et al.
Neuron|December 6, 2015
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic MiceOwen M Peters, Gabriela Toro Cabrera, Helene Tran, et al.
Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.
Acta Neuropathologica|May 17, 2017
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriersMariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2016
Defining SOD1 ALS natural history to guide therapeutic clinical trial designTaha Bali, Wade Self, Jingxia Liu, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
American Journal of Human Genetics|May 26, 2015
Jump from pre-mutation to pathologic expansion in C9orf72Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, et al.
Acta Neuropathologica|September 1, 2014
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stressYong-Jie Zhang, Karen Jansen-West, Ya-Fei Xu, et al.
The Lancet. Neurology|September 10, 2013
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, et al.
Acta Neuropathologica|May 7, 2015
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron diseaseCyril Pottier, Kevin F Bieniek, NiCole Finch, et al.
Nature Neuroscience|January 10, 2018
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTDChing-Chieh Chou, Yi Zhang, Mfon E Umoh, et al.
Neuron|December 6, 2015
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic MiceOwen M Peters, Gabriela Toro Cabrera, Helene Tran, et al.
Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.
Acta Neuropathologica|May 17, 2017
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriersMariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2016
Defining SOD1 ALS natural history to guide therapeutic clinical trial designTaha Bali, Wade Self, Jingxia Liu, et al.
Pageof 5