Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Susan E. Holmes"'
Publikováno v:
Journal of Geography, Environment and Earth Science International. 17:1-13
Autor:
G. H. S. Al-Hawas, Atish Sagar, Brijesh Patel, T. A. Kolawole, Godwill U. Chukwu, S. C. de Paiva, M. A. El-Bendary, Andrew Manu, A. O. Ayanboye, M. N. Dammo, Mathew Adewale Adedokun, Tommy L. Coleman, O. Z. De Lasme, Daniel. E. Azunna, Daniel C. Boice, Rodrigo Oscar de Albuquerque, Théophile Lasm, S. S. A. Lima, Avy Stephane Koffi, Lúcia Maria Alencar Labossiere Auler, Amanda Lafetá Oliveira, Michelle E. Garza, Pankaj Malkani, B. S. U. Ibn Abubakar, Carlos Alberto de Carvalho Filho, L. K. Adopo, Prashant Singh, Edmund C. Merem, Galba Maria de Campos Takaki, Vinícius V. M. Ferreira, A. S. Messias, N. E. Ekeocha, Abhinav Dubey, M. Youan Ta, Susan E. Holmes, Albert J. Osei, P. K. Wokoma, W. M. Shukry, D Baka, H. T. Figueiredo, Raquel Luiza Mageste Fonseca, A. Y. Sangodoyin, Yaw A. Twumasi, Natália Manuele Gomes de Oliveira, O. B. Adelodun, R. M. S. Al-Moaikal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f37c97b3299ed3f9e7ff7ac3efce1c74
https://doi.org/10.9734/bpi/cpecc/v2
https://doi.org/10.9734/bpi/cpecc/v2
Autor:
Elizabeth O'Hearn, Olga Pletnikova, Daniel W. Chung, Ana I. Seixas, Hyon S. Hwang, Christopher A. Ross, Rachael L. Cohen, Russell L. Margolis, Juan C. Troncoso, Dobrila D. Rudnicki, Susan E. Holmes, John Q. Trojanowski
Publikováno v:
Movement Disorders. 30:1813-1824
Objective SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and som
Publikováno v:
Biological Invasions. 12:2303-2318
Brachypodium sylvaticum, or false brome, a recent invader of North America, has spread rapidly following establishment in Oregon in 1939 and is now colonizing at least five US states. To understand how ecological processes and environmental context i
Autor:
Virginia L. Willour, Devin McQuaid, Heather Bruce, Nancy A. Sachs, Lynn E. DeLisi, Daniel P. Gaile, Jeffrey M. Conroy, Stephanie Lin, Michael R. Rossi, Christopher A. Ross, Norma J. Nowak, Dobrila D. Rudnicki, Pamela Sklar, Susan E. Holmes, John K. Cowell, Russell L. Margolis
Publikováno v:
Psychiatric Genetics. 19:64-71
Objectives Genomic copy number variations (CNVs) are a major form of variation in the human genome and play an etiologic role in several neuropsychiatric diseases. Tandem repeats, particularly with long (>50 bp) repeat units, are a relatively common
Autor:
Mohinder Pal Sachdeva, S. Jain, Elizabeth O'Hearn, Mitali Mukerji, Achal Kumar Srivastava, Uma Mittal, A.K. Kalla, Russell L. Margolis, K. Virdi, Samira Bahl, Susan E. Holmes
Publikováno v:
Annals of Human Genetics. 69:528-534
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32. We found that it accounts for approximately 16% (2
Publikováno v:
Movement Disorders. 19:641-648
The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mu- tations in the spastin gene on chromosome 2p. This disease is characterized by intra- and interfamilial phenotypic variation. To determine the pre
Autor:
Tetsuo Ashizawa, Tohru Matsuura, Alfredo Brusco, Chiara Michielotto, Claudia Cagnoli, Susan E. Holmes, Russell L. Margolis, Nicola Migone, Cinzia Gellera
Publikováno v:
Scopus-Elsevier
At least 18 human genetic diseases are caused by expansion of short tandem repeats. Here we describe a successful application of a fluorescent PCR method for the detection of expanded repeats in FRDA1, SCA10, and SCA12 genes. Although this test canno
Autor:
Stanley Fahn, Astrid Rasmussen, Juliette Harris, Adam Rosenblatt, Jayalakshmi S. Mysore, Thomas D. Bird, Takayoshi Shimohata, Shoji Tsuji, Yoshiki Adachi, Ruth H. Walker, E. Almqvist, Christopher A. Ross, Nicholas T. Potter, Amanda Krause, Penny Greenstein, Tetsuo Ashizawa, Kazuhiro Nakaso, William K. Seltzer, Michael R. Hayden, Marcy E. MacDonald, Lisa Gourley, Susan E. Holmes, Kenji Nakashima, Elizabeth O'Hearn, Russell L. Margolis
Publikováno v:
Annals of Neurology. 56:670-674
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q
Autor:
Russell L. Margolis, Susan E. Holmes
Publikováno v:
Clinical Neuroscience Research. 3:187-196
Huntington's disease-like 2 (HDL2) is a recently described disorder caused by a CTG/CAG expansion mutation on chromosome 16q24.3. Like Huntington's disease (HD), it is an adult onset, progressive, neurodegenerative autosomal dominant disorder clinica