Results 71 to 80 of about 3,837 (194)

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

The effect of different hydration media on magnesia

Discover Materials, 2021
This paper discusses the rate of hydration of magnesia (CCM1 and CCM2) during the formation of magnesium hydroxide with magnesium acetate and distilled water.
Friedrich von Hoessle, Reham Farid, Mayar Mohamed, Rawia M. Hammouda, Fritz E. Kühn, Ghada Bassioni   +5 more
doaj   +1 more source

Development of New Ensemble Methods Based on the Performance Skills of Regional Climate Models over South Korea [PDF]

, 2014
In this paper, the prediction skills of five ensemble methods for temperature and precipitation are discussed by considering 20 yr of simulation results (from 1989 to 2008) for four regional climate models (RCMs) driven by NCEP-Department of Energy and ...
Bonan, C.-S. Jin, Casanova, Cha, Cha, Chakraborty, Christensen, Christensen, Coppola, D.-H. Cha, D.-K. Lee, Feng, Fu, Giorgi, Grell, Hong, Juang, Kanamaru, Kanamitsu, Kang, Kang, Kharin, Kim, Krishnamurti, Krishnamurti, Kug, Leduc, Lee, Lee, M.-S. Suh, Miguez-Macho, Murphy, Palmer, Park, Peng, Qian, Reynolds, S.-G. Oh, S.-J. Choi, S.-Y. Hong, Simmons, Skamarock, Tebaldi, Von Storch, Weigel, Yhang, Yhang, Yun   +47 more
core   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity [PDF]

Journal of Cell Science, 2018
ABSTRACT Endothelial integrity relies on a mechanical crosstalk between intercellular and cell–matrix interactions. This crosstalk is compromised in hemorrhagic vascular lesions of patients carrying loss-of-function mutations in cerebral cavernous malformation (CCM) genes.
Lisowska, Justyna, Rödel, Claudia, Manet, Sandra, Miroshnikova, Yekaterina, Boyault, Cyril, Planus, Emmanuelle, de Mets, Richard, Lee, Hsiao-Hui, Destaing, Olivier, Mertani, Hichem, Boulday, Gweńola, Tournier-Lasserve, Elisabeth, Balland, Martial, Abdelilah-Seyfried, Salim, Albiges-Rizo, Corinne, Faurobert, Eva   +15 more
openaire   +4 more sources

Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien [PDF]

, 2018
Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben.
Andermann, E., Andermann, F., Baumann, C., Bertalanffy, H., Dichgans, J., Elger, C., Hopf, H., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R., Rouleau, G., Schramm, J., Siegel, A., Spuck, S., Stefan, H., Sure, U., Verlaan, D.   +18 more
core  

Zebrafish models of cerebrovascular disease [PDF]

, 2014
Perturbations in cerebral blood flow and abnormalities in blood vessel structure are the hallmarks of cerebrovascular disease. While there are many genetic and environmental factors that affect these entities through a heterogeneous group of disease ...
Peterson, Randall T, Walcott, Brian P
core   +1 more source

An X‐ray beamline for utilizing intense, high‐energy undulator radiation

Journal of Synchrotron Radiation, Volume 32, Issue 5, Page 1201-1210, September 2025.
The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.
Hirokatsu Yumoto, Takahisa Koyama, Hiroshi Yamazaki, Yasunori Senba, Yujiro Hayashi, Taito Osaka, Ichiro Inoue, Kenji Tamasaku, Shunji Goto, Makina Yabashi, Haruhiko Ohashi   +10 more
wiley   +1 more source

Cerebral Cavernous Malformations and Focal Drug‐Resistant Epilepsy: Behind a Quid Pro Quo of Lesion and Epileptogenic Networks

European Journal of Neurology, Volume 32, Issue 7, July 2025.
ABSTRACT Background Cerebral cavernous malformations (CCMs) contribute to focal drug‐resistant epilepsy (fDRE), with surgical outcomes varying due to an incomplete understanding of the interplay between CCM‐impacted regions and areas exhibiting ictal or interictal epileptogenicity.
Ionuț‐Flavius Bratu, Lucie de Clerck, Hélène Catenoix, Luc Valton, Jérôme Aupy, Anca Nica, Sylvain Rheims, Sandrine Aubert‐Conil, Jeanne Benoit, Julia Makhalova, Ophélie Galli, Samuel Medina Villalon, Fabrice Bartolomei   +12 more
wiley   +1 more source

Deep-Learning Uncovers certain CCM Isoforms as Transcription Factors

Frontiers in Bioscience-Landmark
Background: Cerebral Cavernous Malformations (CCMs) are brain vascular abnormalities associated with an increased risk of hemorrhagic strokes. Familial CCMs result from autosomal dominant inheritance involving three genes: KRIT1 (CCM1), MGC4607 (CCM2 ...
Jacob Croft, Liyuan Gao, Victor Sheng, Jun Zhang   +3 more
doaj   +1 more source