Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Hans-Henrik M. Dahl"'
Autor:
Edwin P. Kirk, Robert W. Taylor, Canny Sugiana, Denise M. Kirby, Avihu Boneh, Hans Henrik M. Dahl, Renato Salemi, Katrina M. Bell, Akira Ohtake, David R. Thorburn, Michael T. Ryan, Lee Parry
Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a min
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d509e64439ba9680fdc699a1acc871a
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74243 (2013)
Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a
Externí odkaz:
https://doaj.org/article/6e3d9a5751d549ecb449b3bb60e32efc
Autor:
Hans-Henrik M Dahl, Teresa Y C Ching, Wendy Hutchison, Sanna Hou, Mark Seeto, Jessica Sjahalam-King
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59624 (2013)
Hearing loss is an etiologically heterogeneous trait with differences in the age of onset, severity and site of lesion. It is caused by a combination of genetic and/or environmental factors. A longitudinal study to examine the efficacy of early inter
Externí odkaz:
https://doaj.org/article/e4b1ff8bf08e40c08476724730df73ff
Autor:
Kerry A Miller, Louise H Williams, Elizabeth Rose, Michael Kuiper, Hans-Henrik M Dahl, Shehnaaz S M Manji
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51284 (2012)
Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functio
Externí odkaz:
https://doaj.org/article/d7055fa0af4547088767169f6c5fc143
Autor:
Shehnaaz S M Manji, Louise H Williams, Kerry A Miller, Lisa M Ooms, Melanie Bahlo, Christina A Mitchell, Hans-Henrik M Dahl
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17607 (2011)
Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the syn
Externí odkaz:
https://doaj.org/article/66b3bb9bee1a448193c836fec6c9afef
Autor:
Cigdem Ozkara, Angelo Labate, Sara E. Mole, Alan McDougall, Antonio Gambardella, Michael S. Hildebrand, Sulekha Rajagopalan, Vincenzo Belcastro, Danya F. Vears, Hans Henrik M. Dahl, Loretta Giuliano, Karen Oliver, Michael Farrell, Vito Sofia, Barbara Garavaglia, Samuel F. Berkovic, Frederick Andermann, Julia Rankin, Silvana Franceschetti, Stirling Carpenter, Michela Morbin, Alessandro Simonati, Eva Andermann, Penina Krieger, Umberto Aguglia, John A. Damiano, Adam Zeman, Barbara Castellotti, Susan Brammah, Filippo M. Santorelli, Laura Canafoglia
Publikováno v:
Brain (Online) 142 (2019): 59–69. doi:10.1093/brain/awy297
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8a4d4b1478c3413fb6151e97cff45d
http://hdl.handle.net/20.500.11769/407712
http://hdl.handle.net/20.500.11769/407712
Autor:
Benjamin W. Darbro, Michael S. Hildebrand, Leanne M. Dibbens, Heather C Mefford, Susannah T. Bellows, Samuel F. Berkovic, Saul A. Mullen, Ingrid E. Scheffer, Todor Arsov, Kate M. Lawrence, John A. Damiano, Heather J. Major, Hans Henrik M. Dahl
Publikováno v:
Epilepsy Research. 117:70-73
The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribut
Autor:
Yuki Hitomi, Jacinta M McMahon, Samuel F. Berkovic, Myriam Rai, Hans-Henrik M. Dahl, Arvid Suls, Benjamin Legros, Peter De Jonghe, Ingrid E. Scheffer, Chantal Depondt, Patrick Van Bogaert, Simona Donatello, David Goldstein, Massimo Pandolfo, Sarah Weckhuysen, John A. Damiano, Erin L. Heinzen
Publikováno v:
Annals of Neurology. 74:496-501
We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the cod
Autor:
Samuel F. Berkovic, Hans-Henrik M. Dahl, Ingrid E. Scheffer, Anaïs Thouin, Helen Young, Saul A. Mullen, Todor Arsov, Melinda Nolan, Douglas E. Crompton, John A. Damiano, Kate M. Lawrence, Linda L Huh, Lynette G. Sadleir
Publikováno v:
Epilepsia. 53:e204-e207
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 defi
Publikováno v:
The American Journal of Pathology. 180:1560-1569
We report the identification of three new mouse models, baringo, nice, and stitch, with recessively inherited sensorineural deafness due to novel mutations in the transmembrane channel-like gene 1 (Tmc1). These strains were generated by N-ethyl-N-nit