Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Robert T. Egel"'
Publikováno v:
Case Reports in Neurological Medicine, Vol 2012 (2012)
Drop attacks are sudden spontaneous falls that are not accompanied by alteration of consciousness and are followed by immediate recovery. Cataplexy, which is usually associated with narcolepsy, is one of the causes of drop attacks. We report a patien
Externí odkaz:
https://doaj.org/article/69c2b5202f97470d91fd0b80b566c31f
Autor:
Elizabeth Berry-Kravis, Randall L. Woltjer, Andrea Diedrich, Robert T. Egel, Diana Rodriguez, Lindsay C. Reese, Marvin R. Natowicz, Susan J. Hayflick, Callum Wilson, Wendy Wagoner, Simon Hammans, Sarah Green, Allison Gregory, Isabelle Desguerre, Jennifer G. Goldman, Michael C. Kruer, S. H. Subramony, Huong Tran, Lynn Sanford, Penelope Hogarth, Nicola Foulds
Publikováno v:
Neurology
Objective: To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. Methods: Samples from 161 individuals with idiopathic NBIA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7dfc69c050f3799d03d4f0d08c42d0
Autor:
Benjamin H. Ticho, David O. Robinson, Clair Hilchie-Schmidt, Rachel J. Howarth, Elias I. Traboulsi, Robert T. Egel
Publikováno v:
Ophthalmic Genetics. 27:145-149
Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3bee6afa4330192a729e71357795a3
https://doi.org/10.1080/13816810600976897
https://doi.org/10.1080/13816810600976897
Publikováno v:
American Journal of Electroneurodiagnostic Technology. 37:231-235
The need for age-specific guidelines for sleep deprivation has become evident in light of recent issues regarding the use of chloral hydrate in the electroneurodiagnostic (END) laboratory. Our combined professional experience indicated that sleep dep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6054b38629a2e030a9911bd47441af4
https://doi.org/10.1080/1086508x.1997.11079191
https://doi.org/10.1080/1086508x.1997.11079191
Publikováno v:
Case Reports in Neurological Medicine, Vol 2012 (2012)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine
Drop attacks are sudden spontaneous falls that are not accompanied by alteration of consciousness and are followed by immediate recovery. Cataplexy, which is usually associated with narcolepsy, is one of the causes of drop attacks. We report a patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81711ac0717288cd817d939214309e6f
https://doaj.org/article/69c2b5202f97470d91fd0b80b566c31f
https://doaj.org/article/69c2b5202f97470d91fd0b80b566c31f
Publikováno v:
Pediatric neurology. 43(3)
A number of medications have been used with varying success to treat the symptoms of generalized, focal, and paroxysmal dyskinesias; these agents include anticonvulsant, benzodiazepine, neuroleptic, dopaminergic, dopamine antagonist, and carbonic anh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef3cfd40ea7dc693eddca208950ebfae
https://pubmed.ncbi.nlm.nih.gov/20691944
https://pubmed.ncbi.nlm.nih.gov/20691944
Autor:
Michel N. Ilbawi, Paul E. Miller, Lev Podorovsky, Jose A. Quinones, Mounir Y. Obeid, Serafin Y. DeLeon, Robert T. Egel, Rabi F. Sulayman
Publikováno v:
The Annals of Thoracic Surgery. 52:1325-1328
Two patients with Down's syndrome undergoing intracardiac operations had segmental and generalized myoclonic movements postoperatively and eventual brain death. Electroencephalography in 1 patient showed no seizure despite the presence of the myoclon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c720d61fe12c8bc6bb699f0bdc55b2b
https://doi.org/10.1016/0003-4975(91)90024-k
https://doi.org/10.1016/0003-4975(91)90024-k
Publikováno v:
Journal of Pediatric Ophthalmology & Strabismus. 35:116-118
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43eaef271f32cfaf4c37e073d86921a7
https://doi.org/10.3928/0191-3913-19980301-13
https://doi.org/10.3928/0191-3913-19980301-13
Publikováno v:
Journal of neurosurgery. 90(3)
✓ The authors present a case of Hallervorden—Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia. Hallervorden—Spatz disease is a rare type of neuraxonal dystrophy that can be familial o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bddd044db53e2bf7d3af8dbca73b551
https://pubmed.ncbi.nlm.nih.gov/10067928
https://pubmed.ncbi.nlm.nih.gov/10067928
Publikováno v:
Pediatric neurology. 12(1)
A 13-month-old male received crush injury to the abdomen resulting in paraparesis due to lumbosacral plexus neuropathy. The child was monitored with serial clinical examinations and electromyography/nerve conduction studies. He had complete clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0489baddba2d492184a853f28fa934a
https://pubmed.ncbi.nlm.nih.gov/7748364
https://pubmed.ncbi.nlm.nih.gov/7748364