Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch-Boonstra-Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused by mutations or deletions in the NR2F1 gene. Herein, we describe a mouse model...
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July 18, 2019 (v1)Journal articleMouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndromeUploaded on: December 4, 2022
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February 7, 2024 (v1)Publication
Aim Besides their metabolic and endocrine functions, the growth hormone (GH) and its mediated factor, the insulin-like growth factor I (IGF-I), have been implicated in different brain functions, including neurogenesis. Long-lasting elevated GH and IGF-I levels result in non-reversible somatic, endocrine and metabolic morbidities. However, the...
Uploaded on: February 11, 2024 -
February 18, 2020 (v1)Journal article
International audience
Uploaded on: December 4, 2022 -
February 2020 (v1)Journal article
International audience
Uploaded on: December 4, 2022