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Neurology. Genetics

Showing results (21-30 of 1,009) with videos related to

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Neurology. Genetics|April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathyGemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
Neurology. Genetics|April 12, 2016
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimickerNamita A Goyal, Tahseen Mozaffar
Neurology. Genetics|April 12, 2016
GYG1 gene mutations in a family with polyglucosan body myopathyMarina Fanin, Annalaura Torella, Marco Savarese, et al.
Neurology. Genetics|May 27, 2016
White matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, et al.
Neurology. Genetics|August 31, 2017
Ultra-rare mutations in <i>SRCAP</i> segregate in Caribbean Hispanic families with Alzheimer diseaseBadri N Vardarajan, Giuseppe Tosto, Roger Lefort, et al.
Neurology. Genetics|August 31, 2017
Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE studyAnne-Katrin Giese, Markus D Schirmer, Kathleen L Donahue, et al.
Neurology. Genetics|August 31, 2017
A novel intronic mutation in <i>MTM1</i> detected by RNA analysis in a case of X-linked myotubular myopathyAqeela Al-Hashim, Hernan D Gonorazky, Kimberly Amburgey, et al.
Neurology. Genetics|August 31, 2017
Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutationsSorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, et al.
Neurology. Genetics|April 29, 2016
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndromeXu He, Oana Caluseriu, Ratika Srivastava, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Pageof 101

Showing results (21-30 of 1,009) with videos related to

Sort By:
Pageof 101
Neurology. Genetics|April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathyGemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
Neurology. Genetics|April 12, 2016
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimickerNamita A Goyal, Tahseen Mozaffar
Neurology. Genetics|April 12, 2016
GYG1 gene mutations in a family with polyglucosan body myopathyMarina Fanin, Annalaura Torella, Marco Savarese, et al.
Neurology. Genetics|May 27, 2016
White matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, et al.
Neurology. Genetics|August 31, 2017
Ultra-rare mutations in <i>SRCAP</i> segregate in Caribbean Hispanic families with Alzheimer diseaseBadri N Vardarajan, Giuseppe Tosto, Roger Lefort, et al.
Neurology. Genetics|August 31, 2017
Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE studyAnne-Katrin Giese, Markus D Schirmer, Kathleen L Donahue, et al.
Neurology. Genetics|August 31, 2017
A novel intronic mutation in <i>MTM1</i> detected by RNA analysis in a case of X-linked myotubular myopathyAqeela Al-Hashim, Hernan D Gonorazky, Kimberly Amburgey, et al.
Neurology. Genetics|August 31, 2017
Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutationsSorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, et al.
Neurology. Genetics|April 29, 2016
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndromeXu He, Oana Caluseriu, Ratika Srivastava, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Pageof 101