Results 201 to 210 of about 1,690,986 (339)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Breast, colorectal, and prostate cancer risk in the European Prospective Investigation into Cancer and Nutrition–Norfolk in relation to phytoestrogen intake derived from an improved database

, 2009
Heather Ward, Gunter G. C. Kuhnle, Angela A. Mulligan, Marleen A. H. Lentjes, Robert Luben, Kay‐Tee Khaw   +5 more
openalex   +1 more source

Amyotrophic Lateral Sclerosis as a Multistep Process in the United States: A Population‐Based Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease that typically results in death within 3–5 years from symptom onset. However, little is known about the environmental exposures, clinical aspects, or social determinants of health factors that may be associated with the disease.
Jasmine Berry, Jaime Raymond, Theodore Larson, D. Kevin Horton, Moon Han, Theresa Nair, Ammar Al‐Chalabi, Paul Mehta   +7 more
wiley   +1 more source

DNMT1 blocks SOX21-repressed CKS2 transcription to promote gastric cancer progression. [PDF]

BMC Cancer
Wei J, Xue S, Du X, Dai Y, Ji Y, He G.
europepmc   +1 more source

Real estate databases and the new coordinate system in relation to the inspire directive

, 2010
Mihaela Triglav Čekada, Sandi Berk, Blaž Barborič   +2 more
openalex   +1 more source

The International Database of Ambulatory blood pressure in relation to Cardiovascular Outcome (IDACO): protocol and research perspectives [PDF]

, 2007
Lutgarde Thijs, Tine W. Hansen, Masahiro Kikuya, Kristina Björklund‐Bodegârd, Yan Li, Eamon Dolan, Valérie Tikhonoff, Jitka Seidlerová, Tatiana Kuznetsova, Katarzyna Stolarz, Manuel Alva Bianchi, Tom Richart, Edoardo Casiglia, Sofia Malyutina, Jan Filipovský, Kalina Kawecka−Jaszcz, Nikitin IuP, Takayoshi Ohkubo, Edgardo Sandoya, Ji-Guang Wang, Christian Torp‐Pedersen, Lars Lind, Hans Ibsen, Yutaka Imai, Jan A. Staessen, Eoin O’Brien   +25 more
openalex   +1 more source

The degree of possession of the faculty members at Princess Alia University College for the skills on the use of databases and its relation to research performance [PDF]

, 2020
Niqresh Mohammad, Al Dwairi Khaldoon
openalex   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, M. Scoto, A. Sarkozy, P. Munot, S. Robb, E. Chan, V. Robinson, W. Girshab, V. Crook, E. Milev, L. Abbott, A. Wolfe, E. O’Reilly, J. Watts‐Whent, N. Burnett, R. Thomas, R. Terespolsky, O. Martinaeu, J. Longatto, V. Straub, C. Bettolo, M. Guglieri, J. Diaz‐Manera, G. Tasca, M. Elseed, R. Muni‐Lofra, M. James, D. Moat, J. Sodhi, K. Wong, E. Robinson, E. Groves, R. Rabb, D. Parasuraman, H. McMurchie, H. Chase, Tracey Willis, C. Rylance, N. Birchall, E. Wright, A. Childs, K. Pysden, C. Martos, D. Roberts, L. Pallant, S. Walker, A. Henderson, R. Madhu, R. Karuvattil, Y. Balla, S. Gregson, S. Clark, E. Wraige, H. Jungbluth, V. Gowda, M. Vanegas, J. Sheehan, A. Schofield, C. Smith, I. Hughes, E. Whitehouse, S. Warner, E. Reading, N. Emery, J. Moustoukas, K. Strachan, M. Ong, M. Atherton, N. Mills, S. Sanchez Marco, A. Saxena, K. Skone, J. TeWaterNaude, H. Davis, C. Wood, A. Majumdar, A. Murugan, I. Guarino, R. Tomlinson, H. Jarvis, L. Wills, C. Frimpong, J. Watson, G. Cobb, G. Robertson, P. Brink, J. Burslem, C. Adams, J. Wong, S. Joseph, I. Horrocks, J. Dunne, M. DiMarco, S. Brown, S. McKenzie, K. Torne, R. Mohamed, V. Velmurugan, M. Prasad, S. Sedehizadeh, A. Schugal, R. Keetley, S. Williamson, K. Payne, E. Dowling, P. Fenty, C. de Goede, A. Parkes, K. Baxter, M. Illingworth, N. Bhangu, S. Geary, J. Palmer, K. Shill, S. Tirupathi, A. Shah, D. O’Donogue, J. McVeigh, J. McFetridge, G. Nicfhirleinn, H. Beattie, T. Leyland, K. Stevenson, N. Hussain, D. Baskaran, Z. Lambat, R. Sullivan, L. Locke, G. Ambegaonkar, D. Krishnakumar, J. Taylor, J. Moores, E. Stephen, J. Tewnion, S. Ramdas, M. Sa, A. Skippen, M. Khries, C. Lilien, H. Ramjattan, F. Taylor, H. English, K. Stewart, F. Flint, E. Bartram, R. Noble, Francesco Muntoni   +152 more
wiley   +1 more source

FAIR-Compliant Database for Soil Erosion Studies: The Marganai Forest Experiment. [PDF]

Sci Data
Giadrossich F, Murgia I, Guastini E, Ganga A, Di Prima S, Chessa L, Lovreglio R, Scotti R.   +7 more
europepmc   +1 more source

Graph Database An Alternative for Relational Database

International Journal of Computer Sciences and Engineering, 2019
V. M. Thakare, P.P. Karde, H.R. Vyawahare   +2 more
openaire   +1 more source