Zobrazeno 1 - 10
of 31
pro vyhledávání: '"David M. Ritter"'
Autor:
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1301-1309 (2024)
Abstract Objective PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurologic
Externí odkaz:
https://doaj.org/article/e627e51a7036402a954a98ebc3dbbd28
Autor:
David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout, Alexander J. Towbin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to
Externí odkaz:
https://doaj.org/article/e103a99e204f4cb18a867cf5ca0f4595
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
A-type voltage-gated potassium (Kv) channels are major regulators of neuronal excitability that have been mainly characterized in the central nervous system. By contrast, there is a paucity of knowledge about the molecular physiology of these Kv chan
Externí odkaz:
https://doaj.org/article/9464f23bce964aa3903bd2e228adf230
Publikováno v:
Pediatrics In Review. 42:329-331
1. Richard J. Taylor, MD† 2. David M. Ritter, MD, PhD*,†,‡ 3. Maria E. Frazier, MD†,§ 4. Matthew W. Zackoff, MD, MEd*,†,§ 1. *Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, 2. †Department of Pedi
Publikováno v:
Muscle & Nerve. 63
Autor:
Darcy A. Krueger, Gabrielle Stires, David Neal Franz, Karen Agricola, Jamie K. Capal, David M. Ritter
Publikováno v:
Pediatric neurology. 120
Tuberous sclerosis complex (TSC) is a genetic disorder that is manifested in multiple body systems. A mammalian target of rapamycin (mTOR) inhibitor (mTORi), either everolimus or sirolimus, is now routinely prescribed for multiple clinical manifestat
Autor:
David M. Ritter, Katherine D. Holland
Publikováno v:
Seminars in neurology. 40(6)
Because of next-generation sequencing and the discovery of many new causative genes, genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in epilepsy cause a variety of changes that can be broadly classified into
Publikováno v:
Pediatr Neurol
Background Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures and early infantile epileptic encephalopathy. Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we s
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience
A-type voltage-gated potassium (Kv) channels are major regulators of neuronal excitability that have been mainly characterized in the central nervous system. By contrast, there is a paucity of knowledge about the molecular physiology of these Kv chan