Results 241 to 250 of about 543,048 (284)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Considerations on the lumbar spine bone mineral density cutpoint values for defining osteofrailia among older Chinese men. [PDF]

Quant Imaging Med Surg
Wáng YXJ.
europepmc   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

The Pathological Link Between Elevated Markers of Inflammation, Endothelial Activation, and Cardiovascular Diseases in People Living with HIV on Combination Antiretroviral Therapy: A Systematic Review. [PDF]

J Inflamm Res
Mokoena H, Hanser S, Mabhida SE, Choshi J, Sekgala MD, Nkambule BB, Mchiza ZJ, Ndwandwe DE, Kengne AP, Dludla PV.   +9 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Recognition and treatment of polypoidal choroidal vasculopathy and age-related macular degeneration in British Columbia. [PDF]

Int J Retina Vitreous
Lee Y, Rahman S, Tao BK, Fang T, Akil H, Ferrara D, Lam S, Navajas EV.   +7 more
europepmc   +1 more source

Effect of laying time on hatching results and some egg quality characteristics in Caucasian pheasants. [PDF]

Poult Sci
Arslan E, Şamlı MŞ, Tok M, Kırbaş G, Karaman Ö, Kırıkçı K.   +5 more
europepmc   +1 more source

Rapidly Progressing CD8-negative Hypopigmented Mycosis Fungoides in Adult Caucasian Male with Good Response to Mogamulizumab. [PDF]

Acta Derm Venereol
Kimak-Pielas A, Robak T, Braun M, Żebrowska A, Robak E.   +4 more
europepmc   +1 more source

Racial disparities in hepatocellular carcinoma: a TCGA-based gene expression study of Caucasian and Asian populations. [PDF]

Explor Target Antitumor Ther
Rasyak MR, Jayanti S, Disoma C, Pardamean B, Sukowati C.   +4 more
europepmc   +1 more source

On the genetic structure and origin of the little ground squirrel Spermophilus pygmaeus (Pallas, 1778) in the North Caucasus. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Tembotova FA, Amshokova AK, Gudova MS.
europepmc   +1 more source