Sylvie Gerber
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Explore the profile of Sylvie Gerber including associated specialties, affiliations and a list of published articles.
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39
Citations
1263
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Recent Articles
1.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, et al.
EMBO Mol Med
. 2023 Jul;
15(8):e16090.
PMID: 37431816
Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal...
2.
Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet J
Brain
. 2023 Apr;
146(8):3156-3161.
PMID: 37071596
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome, mainly the m.3460G>A, m.11778G>A and...
3.
Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet J
Genes (Basel)
. 2021 Apr;
12(4).
PMID: 33918393
Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase () gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by...
4.
Stenton S, Sheremet N, Catarino C, Andreeva N, Assouline Z, Barboni P, et al.
J Clin Invest
. 2021 Jan;
131(6).
PMID: 33465056
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis...
5.
Ortoli M, Zambrowski O, Miere A, Gerber S, Kaplan J, Souied E
Retina
. 2020 May;
40(8):e32-e33.
PMID: 32467484
No abstract available.
6.
Ng B, Underhill H, Palm L, Bengtson P, Rozet J, Gerber S, et al.
JIMD Rep
. 2018 Aug;
44:85-92.
PMID: 30117111
Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations...
7.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, et al.
Brain
. 2018 Mar;
141(4):e29.
PMID: 29529130
No abstract available.
8.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, et al.
JAMA Neurol
. 2017 Nov;
75(1):105-113.
PMID: 29181510
Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies....
9.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane M, et al.
Brain
. 2017 Oct;
140(10):2586-2596.
PMID: 28969390
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases, the disease is...
10.
Paul A, Drecourt A, Petit F, Dupin Deguine D, Vasnier C, Oufadem M, et al.
Am J Hum Genet
. 2017 Oct;
101(4):630-637.
PMID: 28965846
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families...