Results 51 to 60 of about 206 (103)

Peripheral neuropathies of childhood

, 2009
Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
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The Bosch–Boonstra–Schaaf Optic Atrophy Syndrome: Clinic, Genetics, and EEG Findings in the Course—A Case Report

, 2021
S. Vlaho, O. Shevchenko, H. Kühne, A. Behnecke   +3 more
core   +1 more source

ULTRASTRUCTURAL INVESTIGATIONS OF THE CEREBRAL CORTEX IN MOUSE MODELS OF BBSOAS

The Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777) is a neurodevelopmental disease caused by mutations in the NR2F1 gene, a transcriptional regulator known for its multiple key roles in brain development and postnatal
M. Bertacchi, M. Studer, B. Avallone, C. Fogliano, I. Esposito, M. Gammella   +5 more
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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. [PDF]

Genes (Basel), 2023
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L.   +7 more
europepmc   +1 more source

Pathophysiological Mechanism of Neurodevelopmental Disorders-Overview. [PDF]

Cells, 2022
Nagata KI.
europepmc   +1 more source

Editorial: Molecular and Cellular Crosstalk on Neuronal Functionality and Regulation, From Development to Pathology. [PDF]

Front Mol Neurosci, 2022
Segura I, Egea J.
europepmc   +1 more source

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy. [PDF]

Front Neurol, 2022
Seo Y, Kim TY, Won D, Shin S, Choi JR, Lee ST, Lee BJ, Lim HT, Han SH, Han J.   +9 more
europepmc   +1 more source

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. [PDF]

Front Genet, 2023
Huang Y, Liu C, Ding H, Wang Y, Yu L, Guo F, Li F, Shi X, Zhang Y, Yin A.   +9 more
europepmc   +1 more source

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly. [PDF]

Front Genet, 2023
Tao H, Zhang L, Tan F, Han Y, Wang X, Wu J, Zhai J.   +6 more
europepmc   +1 more source

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

, 2018
Patricia Carnicero-Rodríguez, Chun-An Chen, Christian P. Schaaf, Francisco Martínez-Azorín, María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Elena Martín-Hernández, Marcello Bellusci   +7 more
core   +1 more source