Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Kathrin Huehne"'
1
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease
Autor: Kathrin Huehne, Mikko Kärppä, Bernd Rautenstrauss, Kari Majamaa, Virpi Laitinen, Maria Marttila
Publikováno v: Journal of Neurology. 259:1585-1589
We report a case of late-onset predominantly axonal Charcot-Marie-Tooth disease resulting from a novel mutation in the MPZ gene encoding myelin protein zero (P0). Neurological examination, electrophysiological examination and genetic testing were per
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f8d296d420680103d1624d226926880
https://doi.org/10.1007/s00415-011-6382-5
Zobrazit plný text záznamu
2
High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity
Autor: Andreas Wehrfritz, Bernd Rautenstrauss, Tino Muenster, Roland S. Croner, André Reis, Stefan Leis, Christian Maihöfner, Kathrin Huehne, Stefanie Winter, Thomas Foertsch, Andreas Winterpacht
Publikováno v: European Journal of Pain. 13:1036-1042
Crohn's disease (CD) is a painful inflammatory bowel disease with complex multigenic inheritance. Suggested on the basis of a few isolated reports CD patients require significantly higher post operative opioid doses than patients undergoing comparabl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0b44e04ba7be0e382404848f18b077
https://doi.org/10.1016/j.ejpain.2008.12.004
Zobrazit plný text záznamu
3
Phenotypic variability in giant axonal neuropathy
Autor: Kathrin Huehne, Jean-Michel Vallat, Laurent Magy, S. Assami, D. Grid, Andoni Urtizberea, Tarik Hamadouche, Bernd Rautenstrauss, Meriem Tazir, Sonia Nouioua
Publikováno v: Neuromuscul Disord
Neuromuscul Disord, 2009, 19 (4), pp.270-4. ⟨10.1016/j.nmd.2009.01.011⟩
International audience; Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f4860e208e9ef264af8628b7dfd2958
https://doi.org/10.1016/j.nmd.2009.01.011
Zobrazit plný text záznamu
5
Identification of Alu elements mediating a partial PMP22 deletion
Autor: Bernd Rautenstrauss, Kathrin Huehne, Verena Matejas, Christian Thiel, Claudia Sommer, Sibylle Jakubiczka
Publikováno v: Neurogenetics. 7:119-126
Hereditary neuropathy with liability to pressure palsies (HNPP) is most frequently caused by deletion of a 1.4-Mb region in chromosome 17p11.2-12 including the peripheral myelin protein 22 (PMP22) gene. Smaller deletions partially affecting the PMP22
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fea3796f90e3cc369925ab2aba1586
https://doi.org/10.1007/s10048-006-0030-8
Zobrazit plný text záznamu
7
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia
Autor: Lynda Tyrrell, Carla Nau, Emmanuella M. Eastman, Sulayman D. Dib-Hajj, Andreas Leffler, H.J. Jansen, Edmund Foster, Xiaoyang Cheng, Stephen G. Waxman, Joost P.H. Drenth, Jin-Sung Choi, Kathrin Huehne, Rene H. M. te Morsche
Publikováno v: Brain, 133, Pt 6, pp. 1823-35
Brain, 133, 1823-35
Contains fulltext : 88055.pdf (Publisher’s version ) (Closed access) The Na(v)1.7 sodium channel is preferentially expressed in nocioceptive dorsal root ganglion and sympathetic ganglion neurons. Gain-of-function mutations in Na(v)1.7 produce the n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e8cecae45e28a3e6a9cce1ba645add
https://pubmed.ncbi.nlm.nih.gov/20478850
Zobrazit plný text záznamu
8
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)
Autor: Arn M. J. M. van den Maagdenberg, Stefan Leis, Steffen Uebe, Christian Maihöfner, Frank Birklein, Bernd Rautenstrauss, Ute Schaal, Andreas Winterpacht, Kathrin Huehne, M. Florencia Gosso
Publikováno v: Neuroscience Letters, 472(1), 19-23
Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae48bce90a051e6dcf44b9f6f1c3763a
http://hdl.handle.net/1887/100781
Zobrazit plný text záznamu
10
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
Autor: Radim Mazanec, Andrew J Wallace, L. Baránková, Pavel Seeman, Kathrin Huehne, Bernd Rautenstrauss, Petra Laššuthová, Jana Haberlová
Publikováno v: Journal of human genetics. 54(6)
The LMNA gene was sequenced in 98 Czech patients from 94 unrelated families with early-onset axonal Charcot–Marie–Tooth (CMT) disease consistent with both autosomal recessive inheritance and sporadic cases. Biallelic pathogenic mutations were not
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c952d22163e9c21d75c17d37eed238b
https://pubmed.ncbi.nlm.nih.gov/19424285
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje