Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Mary‐Alice Abbott"'
Autor:
Sirisha Nouduri, Rajiv Padmanabhan, Richard Hicks, Mary-Alice Abbott, Dennis O'Brien, Gottfried Schlaug
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and other features (short stature, headaches, seizures, and sensorineural hearing loss) constitute characteristics of MELAS syndrome. MELAS is a rare condition due to mutations i
Externí odkaz:
https://doaj.org/article/c0450d131ae0476b82eda383d7962f45
Autor:
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)
Abstract Objective To delineate the full phenotypic spectrum of BCS1L‐related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective mult
Externí odkaz:
https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Autor:
Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 26 (2021)
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection
Externí odkaz:
https://doaj.org/article/4dcad59a475a4663b811ae4d4fa431c4
Autor:
Marjon van Slegtenhorst, Paul Lasko, Jill R. Murrell, Romy van de Putte, Courtney Manning, Mary-Alice Abbott, Constance T. R. M. Stumpel, Jacqueline Leonard, Iris A.L.M. van Rooij, Servi J. C. Stevens, Han G. Brunner, Alexander Hoischen, Karin E. M. Diderich, Louise C. Pyle, Jorune Balciuniene
Publikováno v:
Clinical Genetics, 101, 183-189
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd
Contains fulltext : 248942.pdf (Publisher’s version ) (Open Access) The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in pa
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:219-223
Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al.
Autor:
Benedikt Schoser, Mary-Alice Abbott, Antonio Toscano, Meredith C. Foster, Magali Periquet, Priya Kishnani
Publikováno v:
Molecular Genetics and Metabolism. 138:107310
Autor:
Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan
Publikováno v:
J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked g
Autor:
null Servi J. C. Stevens, null Constance T. R. M. Stumpel, null Karin E. M. Diderich, null Marjon A. Slegtenhorst, null Mary‐Alice Abbott, null Courtney Manning, null Jorune Balciuniene, null Louise C. Pyle, null Jacqueline Leonard, null Jill R. Murrell, null Romy Putte, null Iris A. L. M. Rooij, null Alexander Hoischen, null Paul Lasko, null Han G. Brunner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aec1fbfcfc6b6f344a3c8fdc1b09f214
https://doi.org/10.1111/cge.14076/v3/response1
https://doi.org/10.1111/cge.14076/v3/response1
Autor:
Phuong L. Nguyen, Sajjad Hassan, Jess F. Peterson, Patricia T. Greipp, Matthew W. Richardson, Rachana Singh, Shubham Bakshi, Lisa Grady, Mary Alice Abbott, John Hunt, Patrick R. Blackburn, Alexander S. Roseman
Publikováno v:
Cancer Genetics. 244:62-64