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Angela Abicht

Showing results (71-80 of 102) with videos related to

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Neurology. Genetics|December 20, 2024
Updated Structure of <i>CNBP</i> Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.
Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.
Neuropediatrics|October 21, 2020
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size MattersEva-Katharina Willimsky, Anna Munzig, Karin Mayer, et al.
Neuromuscular Disorders : NMD|May 16, 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literatureRoberta Brusa, Francesca Magri, Dimitra Papadimitriou, et al.
Journal of Neuromuscular Diseases|January 13, 2024
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic AtrophyAndrea Gangfuß, Philipp Rating, Tomas Ferreira, et al.
Journal of Neurology|August 9, 2011
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeAmina Chaouch, Juliane S Müller, Velina Guergueltcheva, et al.
Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment responseMarius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
Biomed Research International|November 10, 2015
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatmentAnne K Braczynski, Stefan Vlaho, Klaus Müller, et al.
Frontiers in Neurology|December 21, 2023
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratoriesMaximilian G W Witzel, Christian Gebhard, Sören Wenzel, et al.
Pageof 11

Showing results (71-80 of 102) with videos related to

Sort By:
Pageof 11
Neurology. Genetics|December 20, 2024
Updated Structure of <i>CNBP</i> Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.
Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.
Neuropediatrics|October 21, 2020
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size MattersEva-Katharina Willimsky, Anna Munzig, Karin Mayer, et al.
Neuromuscular Disorders : NMD|May 16, 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literatureRoberta Brusa, Francesca Magri, Dimitra Papadimitriou, et al.
Journal of Neuromuscular Diseases|January 13, 2024
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic AtrophyAndrea Gangfuß, Philipp Rating, Tomas Ferreira, et al.
Journal of Neurology|August 9, 2011
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeAmina Chaouch, Juliane S Müller, Velina Guergueltcheva, et al.
Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment responseMarius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
Biomed Research International|November 10, 2015
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatmentAnne K Braczynski, Stefan Vlaho, Klaus Müller, et al.
Frontiers in Neurology|December 21, 2023
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratoriesMaximilian G W Witzel, Christian Gebhard, Sören Wenzel, et al.
Pageof 11