Results 91 to 100 of about 1,329,284 (283)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

AMNH type specimens of birds.

open access: yes, 2010
178 p. : 1 ill. ; 26 cm. "Issued June 3, 2010." Pts. 1-3 & 5-7 issued as v. 150, article 3 (1973), v. 161, article 1 (1978), no. 257 (2000), no. 278 (2003), no. 292 (2005), and no. 313 (2008) of Bulletin of the American Museum of Natural History; pt. 4
American Museum of Natural History.   +1 more
core  

Stellar feedback effects on the mass distribution of clouds and cloud complexes

open access: yesAstronomy & Astrophysics
Context. Galaxy evolution is sensitive to how stars inject feedback into their surroundings. In particular, the stellar feedback from star clusters strongly affects gas motions and, consequently, the baryonic cycle.
Veroneze Quinalha Luanna   +2 more
doaj   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem   +17 more
wiley   +1 more source

AMNH type specimens. Zosteropidae and Meliphagidae.

open access: yes, 2011
184 p. ; 26 cm. "Issued April 29, 2011." Pts. 1-3 & 5-8 issued as v. 150, article 3 (1973), v. 161, article 1 (1978), no. 257 (2000), no. 278 (2003), no. 292 (2005), no. 313 (2008) and no.
LeCroy, Mary.   +1 more
core  

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli   +5 more
wiley   +1 more source

AMNH type specimens Emberizidae.

open access: yes, 2012
125 p. ; 26 cm. Pts. 1-3 & 5-9 issued as v. 150, article 3 (1973), v. 161, article 1 (1978), no. 257 (2000), no. 278 (2003), no. 292 (2005), no. 313 (2008), no. 333 (2010) and no. 348 (2011) of Bulletin of the American Museum of Natural History; pt.
American Museum of Natural History.   +1 more
core  

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

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