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Richard Webster

Showing results (131-140 of 163) with videos related to

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Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Epilepsia|July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeJohn C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
Neurology|March 16, 2018
A multinational study on motor function in early-onset FSHDJean K Mah, Jia Feng, Marni B Jacobs, et al.
Ebiomedicine|September 29, 2022
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroidsJingya Yan, Kavitha Kothur, Emily A Innes, et al.
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Pediatrics|March 25, 2015
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcomeSekhar C Pillai, Yael Hacohen, Esther Tantsis, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
Pageof 17

Showing results (131-140 of 163) with videos related to

Sort By:
Pageof 17
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Epilepsia|July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeJohn C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.
Neurology|March 16, 2018
A multinational study on motor function in early-onset FSHDJean K Mah, Jia Feng, Marni B Jacobs, et al.
Ebiomedicine|September 29, 2022
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroidsJingya Yan, Kavitha Kothur, Emily A Innes, et al.
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Pediatrics|March 25, 2015
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcomeSekhar C Pillai, Yael Hacohen, Esther Tantsis, et al.
Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
Pageof 17