TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Autor: Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs

Publikováno v: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9

Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9

Using the two-source capture-recapture method to estimate the incidence of acute flaccid paralysis in Victoria, Australia

Autor: Whitfield Kathryn, Kelly Heath

Publikováno v: Bulletin of the World Health Organization, Vol 80, Iss 11, Pp 846-851 (2002)

OBJECTIVE: To estimate the incidence and the completeness of ascertainment of acute flaccid paralysis (AFP) in Victoria, Australia, in 1998-2000 and to determine its common causes among children aged under 15 years. METHODS:: The two-source capture-r

Externí odkaz: https://doaj.org/article/660ae04c829a481484b1c653d1e81456

Bilateral isolated C5 paralysis of the shoulder: Atypical presentation of a transdiscal C4-C5 cervical spine fracture

Autor: Pietro Laudato, Elisa Mareddu, Stefan Bauer, Aurélien Traverso

Publikováno v: BMJ case reports, vol. 14, no. 3
BMJ Case Rep

After a low-energy fall, an 83-year-old man presented with bilateral weakness of the upper arms without loss of sensation associated with a rigid cervical spine (ankylosing spinal disorder, ASD). Because of an atypical presentation during history, ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb138dcbc8f0db48c5eec203e6f6d9b
https://serval.unil.ch/resource/serval:BIB_7E874F5ABF19.P001/REF.pdf

Phrenic nerve palsy in children associated with confirmed intrathoracic tuberculosis: diagnosis and clinical course

Autor: Jacques T. Janson, Robert P. Gie, Sharon Kling, Savvas Andronikou, Pierre Goussard, G.J. Roussouw

In this descriptive retrospective cases series of eight cases phrenic nerve palsy in children caused by tuberculosis lymph gland infiltration of the phrenic nerve. The lymph gland enlargement was in all cases caused by culture confirmed Mycobacterium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9badf671dd122384fb31c1456f7227
http://olympias.lib.uoi.gr/jspui/handle/123456789/19294

The paper grip test for screening on intrinsic muscle paralysis in the foot of leprosy patients

Autor: de Win, Maartje M L, Theuvenet, Wim J, Roche, Paul W, de Bie, Rob A, van Mameren, Henk

Publikováno v: International journal of leprosy and other mycobacterial diseases, 70(1), 16-24. Allen Press Inc.

Plantar intrinsic foot muscles provide structure to the foot during walking and thus regulate mechanical foot sole stresses. When paralyzed, for instance in leprosy patients with neuropathy of the distal part of the tibial nerve, there is a high prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::ffb8e324e56b028c223d900cc805701c
https://pure.amc.nl/en/publications/the-paper-grip-test-for-screening-on-intrinsic-muscle-paralysis-in-the-foot-of-leprosy-patients(f72fb7a6-ca56-42c1-b16a-052f856e3a24).html