Results 11 to 20 of about 354,249 (306)

Prevalence of major external structural birth defects in Kiambu County, Kenya, 2014-2018

open access: yesThe Pan African Medical Journal, 2020
INTRODUCTION: Major external structural birth defects are typical and have been attributed to childhood morbidity, mortality and lifelong resource-intensive disabilities.
George Nyadimo Agot   +2 more
doaj   +1 more source

Guidance landscapes unveiled by quantitative proteomics to control reinnervation in adult visual system

open access: yesNature Communications, 2022
Long-distance regeneration in the adult central nervous system shows severe guidance defects preventing circuit reformation. Here, the authors reveal a comprehensive map of guidance cues in the adult visual system that can be used to modulate the path of
Noemie Vilallongue   +10 more
doaj   +1 more source

Ataxin-2 is essential for cytoskeletal dynamics and neurodevelopment in Drosophila

open access: yesiScience, 2022
Summary: Ataxin-2 (Atx2) is a highly conserved RNA binding protein. Atx2 undergoes polyglutamine expansion leading to amyotrophic lateral sclerosis (ALS) or spinocerebellar ataxia type 2 (SCA2).
Urko del Castillo   +4 more
doaj   +1 more source

A zinc transporter gene required for development of the nervous system. [PDF]

open access: yes, 2013
The essentiality of zinc for normal brain development is well established. It has been suggested that primary and secondary zinc deficiencies can contribute to the occurrence of numerous human birth defects, including many involving the central nervous ...
Chowanadisai, Winyoo   +4 more
core   +1 more source

Engineered Schwann Cell-Based Therapies for Injury Peripheral Nerve Reconstruction

open access: yesFrontiers in Cellular Neuroscience, 2022
Compared with the central nervous system, the adult peripheral nervous system possesses a remarkable regenerative capacity, which is due to the strong plasticity of Schwann cells (SCs) in peripheral nerves.
Qisong Su   +30 more
doaj   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

open access: yes, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore   +8 more
core   +1 more source

Lack of Serologic Evidence for an Association between Cache Valley Virus Infection and Anencephaly and other Neural Tube Defects in Texas

open access: yesEmerging Infectious Diseases, 1997
We tested the hypothesis that Cache Valley Virus (CVV), an endemic North American bunyavirus, may be involved in the pathogenesis of human neural tube defects. This investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a
J. F. Edwards, K. Hendricks
doaj   +1 more source

Drosophila CG3303 is an essential endoribonuclease linked to TDP-43-mediated neurodegeneration [PDF]

open access: yes, 2017
Endoribonucleases participate in almost every step of eukaryotic RNA metabolism, acting either as degradative or biosynthetic enzymes. We previously identified the founding member of the Eukaryotic EndoU ribonuclease family, whose components display ...
BOZZONI, Irene   +11 more
core   +1 more source

PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]

open access: yesRomanian Journal of Pediatrics, 2009
This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
doaj   +1 more source

Sweat Function in Babies with Defects of Central Nervous System [PDF]

open access: yesArchives of Disease in Childhood, 1969
Sweat function has been studied as part of the full neurological examination of 50 full-term infants with malformation of the central nervous system. 26 of the children were less than 1 month old at the time of examination, and a further 10 were less than 3 months old.
K G, Foster, E N, Hey, B, O'Connell
openaire   +5 more sources

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