Zobrazeno 1 - 10
of 41
pro vyhledávání: '"horizontal gaze palsy with progressive scoliosis"'
Publikováno v:
Guoji Yanke Zazhi, Vol 24, Iss 8, Pp 1234-1239 (2024)
Congenital cranial dysinnervation disorders(CCDDs)are a group of diseases with congenital non-progressive developmental abnormalities or absence of one or more cranial nerves, resulting in primary or secondary abnormalities of cranial nerves innervat
Externí odkaz:
https://doaj.org/article/d90a30da44b14e0e8f9c6b0f68882914
Autor:
Hassan Ali AlSayegh, MBBS, Zahraa Ahmed AlSubaie, MBBS, Hesham Jassim AlRamadhan, MBBS, Qasem Mohammed AlAlwan, MBBS, Hani Ali Almohammed Ali, MD, Ssc-Rad, EBIR, Jaafar AlObaid, MBBS, SB-Rad, SF-NR
Publikováno v:
Radiology Case Reports, Vol 17, Iss 9, Pp 3132-3138 (2022)
Horizontal gaze palsy with progressive scoliosis is a rare entity with few cases in the literature. Despite the fact the patient will not present with typical symptoms of this syndrome, clinical suspicion should be raised particularly in terms of ima
Externí odkaz:
https://doaj.org/article/383266f8d4774ca48f8c5af90eb857c7
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)
Abstract Background Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorp
Externí odkaz:
https://doaj.org/article/6170650ab7a7481b8fff067c830056d6
Publikováno v:
Indian Journal of Ophthalmology, Vol 59, Iss 2, Pp 162-165 (2011)
Synergistic convergence is an ocular motor anomaly where on attempted abduction or on attempted horizontal gaze, both the eyes converge. It has been related to peripheral causes such as congenital fibrosis of extraocular muscles (CFEOM), congenital c
Externí odkaz:
https://doaj.org/article/32d0f8cca45743ef8adedac3d6268003
Akademický článek
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Autor:
Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A, Yu, Timothy W, IRC5 Consortium, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J
Publikováno v:
Human mutation, vol 39, iss 1
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::577eb0a93ae4f67edd0c9abd76fdb2f8
https://escholarship.org/uc/item/79v6v22q
https://escholarship.org/uc/item/79v6v22q
Publikováno v:
BMC Neurology
BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)
BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)
Background Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorporating d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::323b90381777ecdb921ba6be1570e0cd
https://pubmed.ncbi.nlm.nih.gov/29843650
https://pubmed.ncbi.nlm.nih.gov/29843650
Autor:
Gail Robinson, Saumya Shekhar Jamuar, Elizabeth C. Engle, Helen M. Cooper, Guy A. Rouleau, Ashley P L Marsh, Christel Depienne, Thierry Billette de Villemeur, Linda J. Richards, Elliott H. Sherr, Richard J. Leventer, Delphine Héron, Agnès Rastetter, Marie-Laure Moutard, Charles A. Galea, Oriane Trouillard, Paul J. Lockhart, Timothy W. Yu, Megan Spencer-Smith, Emmanuel Roze, Timothy J. Edwards, Aurélie Méneret, Caroline Nava, Christopher A. Walsh
Publikováno v:
Human Mutation
Human Mutation, 2017, 39 (1), pp.23-39. ⟨10.1002/humu.23361⟩
Human Mutation, 2017, 39 (1), pp.23-39. ⟨10.1002/humu.23361⟩
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35ca879a6fee9e2691af4f066f68561
https://hal.science/hal-03663180
https://hal.science/hal-03663180
Autor:
Shuhei Yamada, Kosuke Mori, Shin Nakajima, Yoshiko Okita, Ema Yoshioka, Masahiro Nonaka, Yonehiro Kanemura, Tomoko Shofuda
Publikováno v:
BMC Neurology
Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem. Case presentation: We present a patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c8641fd80fbc3d3325815296f17
http://europepmc.org/articles/PMC4356136
http://europepmc.org/articles/PMC4356136
Akademický článek
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