Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Alan M, Pittman"'
Autor:
Enrico Bugiardini, Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores, Alan M. Pittman, Jasper M. Morrow, Matthew Parton, Henry Houlden, Perry M. Elliott, Petros Syrris, Roderick P. Maas, Mohammed M. Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten, Erik‐Jan Kamsteeg, Baziel van Engelen, Michael G. Hanna, Rahul Phadke, Luis R. Lopes, Emma Matthews, Dean J. Burkin
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 23 (2022)
Background Integrin α7β1 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin α7β1 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases.
Externí odkaz:
https://doaj.org/article/350a26baecc8491eac3c63f5cd504fe7
Autor:
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (W
Externí odkaz:
https://doaj.org/article/2e1d6eded8e9403bb6df484406529752
Autor:
Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J. Carroll
Purpose: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.Methods: We performed a detailed clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8223f73bbd5b707e1c5d859eb2bb697e
http://hdl.handle.net/10138/356336
http://hdl.handle.net/10138/356336
Autor:
Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan M Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan-Willem Taanman, Anthony H Schapira, Christos Proukakis
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180467 (2017)
Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under
Externí odkaz:
https://doaj.org/article/85a2ca19810844f4bdb02cb93582722d
Autor:
Enrico Bugiardini, Alan M. Pittman, Conceição Bettencourt, C Woodward, Henry Houlden, Alejandro Horga, Antonella Spinazzola, Ilaria Dalla Rosa, Iain P. Hargreaves, Langping He, Emma L. Blakely, Michael G. Hanna, Sachit Shah, Andreea Manole, Alice L Mitchell, Robert W. Taylor, Robert D S Pitceathly, James M. Polke, Ian J Holt, Mary M. Reilly, Walied Mowafi, Ros Quinlivan
Publikováno v:
Molecular Biology Reports. 48:2093-2104
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a62207667a5b17ffd1f7fbb71ad1e3c
https://doi.org/10.1007/s11033-021-06188-1
https://doi.org/10.1007/s11033-021-06188-1
Autor:
Mari Muldmaa, Pille Taba, Sulev Kõks, John Hardy, Alan M. Pittman, Katrin Sikk, Liis Kadastik-Eerme, Niccolo E. Mencacci
Publikováno v:
Acta Neurologica Scandinavica. 143:89-95
Objective To examine the genetic variability of Estonian Parkinson's disease (PD) patients using an ongoing epidemiological study in combination with a genetic analysis. Methods This study was a community‐based genetic screening study of 189 PD pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1e8bf1c932e357805dee976d9b6763
https://doi.org/10.1111/ane.13329
https://doi.org/10.1111/ane.13329
Autor:
Amanda J. Myers, Alan M. Pittman, Alice S. Zhao, Kristen Rohrer, Mona Kaleem, Lauren Marlowe, Andrew Lees, Doris Leung, Ian G. McKeith, Robert H. Perry, Chris M. Morris, John Q. Trojanowski, Christopher Clark, Jason Karlawish, Steve Arnold, Mark S. Forman, Vivianna Van Deerlin, Rohan de Silva, John Hardy
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 3, Pp 561-570 (2007)
Previously we have shown that the H1c haplotype on the background of the H1 clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer’s disease (A
Externí odkaz:
https://doaj.org/article/8d634a24426e480a820cfa3b11293a36
Autor:
Charles Lee, Takeo Yoshikawa, Jamal Nasir, Peter De Rijk, Niranjanan Nirmalananthan, Deborah Hughes, Chengsheng Zhang, Kerra Pearce, Alan M. Pittman, Robin M. Murray, Qihui Zhu, Tomas W Fitzgerald, Mark Kristiansen, Elliott Rees, John Hardy, Eliza Cerveira, Nirmal Vadgama, Michael A. Simpson, George Kirov
Publikováno v:
Eur J Hum Genet
European journal of human genetics
European journal of human genetics
Recent studies have demonstrated genetic differences between monozygotic (MZ) twins. To test the hypothesis that early post-twinning mutational events associate with phenotypic discordance, we investigated a cohort of 13 twin pairs (n = 26) discordan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1112dd0e8be1a87852f5d4b014c954
https://doi.org/10.1038/s41431-019-0376-7
https://doi.org/10.1038/s41431-019-0376-7
Autor:
Alejandro, Horga, Andreea, Manole, Alice L, Mitchell, Enrico, Bugiardini, Iain P, Hargreaves, Walied, Mowafi, Conceição, Bettencourt, Emma L, Blakely, Langping, He, James M, Polke, Catherine E, Woodward, Ilaria, Dalla Rosa, Sachit, Shah, Alan M, Pittman, Ros, Quinlivan, Mary M, Reilly, Robert W, Taylor, Ian J, Holt, Michael G, Hanna, Robert D S, Pitceathly, Antonella, Spinazzola, Henry, Houlden
Publikováno v:
Molecular biology reports. 48(3)
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e657aec848fe35279a97624074c2439
https://pubmed.ncbi.nlm.nih.gov/33742325
https://pubmed.ncbi.nlm.nih.gov/33742325
Autor:
Audrey Ker Shin Soo, Sanna Puusepp, Niccolo E. Mencacci, Burcu Atasu, Joaquin Campos, Jinye Dai, Nicholas W. Wood, Javier Simón-Sánchez, Alan M. Pittman, Manju A Kurian, Ebba Lohmann, Katrin Õunap, Thomas Gasser, Dimitri Krainc, Liis Kadastik-Eerme, Karit Reinson, Thomas T. Warner, Arianna Tucci, Thomas C. Südhof, Bettina Balint, Christopher Patzke, Michael Schwake, Reet Rein, Apostolos Papandreou, Paulina Gonzalez-Latapi, Sarah Wiethoff, Claudio Acuna, Gemma L. Carvill, Sander Pajusalu, Hasmet Hanagasi, Christian Rosenmund, Tiiu Tomberg, Kailash P. Bhatia, Marisa M Brockmann, Gabriela Pino
Publikováno v:
J Clin Invest
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc0b4caef2c95228d03142342a2635d
https://pubmed.ncbi.nlm.nih.gov/33539324
https://pubmed.ncbi.nlm.nih.gov/33539324