Results 151 to 160 of about 26,229 (202)

The benefits of exploiting rare genetic disorders to better understand human health and disease [PDF]

, 2016
Tee, Andrew
core   +2 more sources

Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1). [PDF]

Acta Neuropathol Commun
Aghoghovwia BE, Shen CE, Bano S, Shyamala N, Echeandia Marrero A, Irshad K, Sharafaldin S, Brossier NM, Pan Y.   +8 more
europepmc   +1 more source

Molecular Dynamics Simulations of the SPRED2^Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin. [PDF]

Int J Mol Sci
Terrusa M, Sangiovanni E, Motta M, Tartaglia M, Prandi IG, Chillemi G.   +5 more
europepmc   +1 more source

Zebrafish neurofibromatosis type 1 mutants show disruption of sleep but not of circadian rhythms. [PDF]

Sleep
Lee DA, Oikonomou G, Chiu Y, Cho AD, Xu J, Cammidge T, Singh C, Prober DA.   +7 more
europepmc   +1 more source

A transcriptomic, proteomic, and functional genetic atlas dissects neurofibromin function in the peripheral nervous system. [PDF]

Proc Natl Acad Sci U S A
Vasudevan HN, Arang N, Sacconi Nunez M, Kennedy P, Payne E, Mohabeer S, Chien J, Wright A, Sale MJ, Krogan NJ, Forget A, McCormick F.   +11 more
europepmc   +1 more source

Cognitive and autism-like abnormalities are associated with gut microbiome alterations in a mouse model of Neurofibromatosis type I

Hannan A, Reisinger S, de Garde Nv, Kong G, Muhammad A, Lu D, Senthilkumar P, Kiridena P, Gubert C, Dabscheck G, Payne J.   +10 more
europepmc   +1 more source

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications. [PDF]

Eur J Pediatr
Yahia S, Abdelmoneim Z, Ghozzy D, Wahba Y, Abo-Haded HM.   +4 more
europepmc   +1 more source

From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care. [PDF]

Orphanet J Rare Dis
Zhao VSC.
europepmc   +1 more source