Zobrazeno 1 - 10
of 189
pro vyhledávání: '"Thomas M Bosley"'
Autor:
Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation
Externí odkaz:
https://doaj.org/article/97df3926904048ffaa54612dd30d667d
Publikováno v:
SN Comprehensive Clinical Medicine. 3:1968-1972
To report novel ocular findings in unique Marinesco-Sjögren syndrome (early-onset cataracts, cerebellar ataxia, and a progressive myopathy), review literature, and discuss causes of vision decrease in this rare entity. A 3-year-old girl diagnosed wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a916e5ec79fbb9f20d9bd79d17d374c
https://doi.org/10.1007/s42399-021-00974-5
https://doi.org/10.1007/s42399-021-00974-5
Publikováno v:
Neuroophthalmology
We describe a child from a consanguineous family born with a rare autosomal recessive disorder affecting junctional adhesion molecule 3 (JAM3) causing profound neurological and ophthalmological injury known as haemorrhagic brain destruction, subepend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb5e0a8ee251ee3636976c7faca7e18
https://europepmc.org/articles/PMC9928457/
https://europepmc.org/articles/PMC9928457/
Autor:
Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. Methods: We report a Saudi family
Externí odkaz:
https://doaj.org/article/a4dfd5789c5648738246a332b1f88dac
Autor:
Thomas M. Bosley
Publikováno v:
Controversies in Neuro-Ophthalmic Management ISBN: 9783030741020
Partial or complete palsies of the oculomotor nerve are not common but are somewhat more frequent than many neuro-ophthalmologic abnormalities. Interest in oculomotor nerve palsies, therefore, is not driven by the frequency of these events but rather
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::379d392d97256d9941f616ef56856a73
https://doi.org/10.1007/978-3-030-74103-7_12
https://doi.org/10.1007/978-3-030-74103-7_12
Autor:
Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 11 (2013)
Externí odkaz:
https://doaj.org/article/232d7ed6a829492b887c2d4fafbbd979
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 41(2)
Background En face optical coherence tomography (OCT) uses the data acquired during OCT of the optic disc, which typically is used to determine measurements of the peripapillary retinal nerve fiber layer (ppRNFL), to generate a coronal composite fund
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28fea70570c15872ec07bb33a97ab87
https://pubmed.ncbi.nlm.nih.gov/32235232
https://pubmed.ncbi.nlm.nih.gov/32235232
Publikováno v:
Journal of Neuro-Ophthalmology. 41:e713-e714
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68ec66b56c9b3ebe207211cf10abfd5
https://doi.org/10.1097/wno.0000000000001150
https://doi.org/10.1097/wno.0000000000001150
Publikováno v:
Human Pathology. 63:70-78
Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well-studied in contemporary literature. Ninety specimens involving the eye and ocular adnexa (1979–2015) from 67 patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46079b2546629efe6aac3a01f2126fde
https://doi.org/10.1016/j.humpath.2017.02.006
https://doi.org/10.1016/j.humpath.2017.02.006
Autor:
May L. Griebel, Klaus Schmitz-Abe, Anh Thu N. Lam, Abdullah Abu Jamea, Caroline D. Robson, Mauricio R. Delgado, Sarah Servattalab, Mohammad Asif Dogar, Ibrahim A. Alorainy, A. James Barkovich, Maya Peeva, Saumya Shekhar Jamuar, Marie Drottar, Kyriacos Markianos, Khaled K. Abu-Amero, Zayed Al Zayed, Elizabeth C. Engle, P. Ellen Grant, Alissa M. D'Gama, Wai-Man Chan, Christopher A. Walsh, Nancy J. Clegg, Ed S. Lein, Timothy W. Yu, Wendy L. Ward, Thomas M. Bosley
Publikováno v:
Nature genetics
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810f6d374273cf3a5e7ec3c2d4ae6bab
https://doi.org/10.1038/ng.3804
https://doi.org/10.1038/ng.3804