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Gerber, Sylvie
219
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Online (219)
Mediatypes
Articles (Online) (42)
Bookchapter (Online) (4)
OpenAccess-fulltext (173)
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1
Autosomal recessive pathogenic MSTO1 variants in hereditary..:
Gerber, Sylvie
;
Lessard, Lola
;
Rouzier, Cécile
...
EMBO Molecular Medicine. 15 (2023) 8 - p. , 2023
Link:
https://doi.org/10.15252..
?
2
Autosomal recessive Leber hereditary optic neuropathy, a ne..:
Lenaers, Guy
;
Beaulieu, Cléis
;
Charif, Majida
...
Brain. 146 (2023) 8 - p. 3156-3161 , 2023
Link:
https://doi.org/10.1093/..
?
3
Impaired complex I repair causes recessive Leber's heredita..:
Stenton, Sarah L.
;
Sheremet, Natalia L.
;
Catarino, Claudia B.
...
Journal of Clinical Investigation. 131 (2021) 6 - p. , 2021
Link:
https://doi.org/10.1172/..
?
4
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy:
Gerber, Sylvie
;
Orssaud, Christophe
;
Kaplan, Josseline
..
Genes. 12 (2021) 4 - p. 521 , 2021
Link:
https://doi.org/10.3390/..
?
5
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinica..:
, In:
JIMD Reports; JIMD Reports, Volume 44
,
University of Washington Center for Mendelian Genomics
;
Ng, Bobby G.
;
Underhill, Hunter R.
... - p. 85-92 , 2018
Link:
https://doi.org/10.1007/..
?
6
Reply: The expanding neurological phenotype of DNM1L-relate..:
Gerber, Sylvie
;
Charif, Majida
;
Chevrollier, Arnaud
...
Brain. 141 (2018) 4 - p. e29-e29 , 2018
Link:
https://doi.org/10.1093/..
?
7
Mutations in DNM1L, as in OPA1, result in dominant optic at..:
Gerber, Sylvie
;
Charif, Majida
;
Chevrollier, Arnaud
...
Brain. 140 (2017) 10 - p. 2586-2596 , 2017
Link:
https://doi.org/10.1093/..
?
8
Incomplete penetrance of biallelic ALDH1A3 mutations:
Plaisancié, Julie
;
Brémond-Gignac, Dominique
;
Demeer, Bénédicte
...
European Journal of Medical Genetics. 59 (2016) 4 - p. 215-218 , 2016
Link:
https://doi.org/10.1016/..
?
9
TMEM126A is a mitochondrial located mRNA (MLR) protein of t..:
Hanein, Sylvain
;
Garcia, Mathilde
;
Fares-Taie, Lucas
...
Biochimica et Biophysica Acta (BBA) - General Subjects. 1830 (2013) 6 - p. 3719-3733 , 2013
Link:
https://doi.org/10.1016/..
?
10
Spastic paraplegia gene 7 in patients with spasticity and/o..:
Klebe, Stephan
;
Depienne, Christel
;
Gerber, Sylvie
...
Brain. 135 (2012) 10 - p. 2980-2993 , 2012
Link:
https://doi.org/10.1093/..
?
11
Mutations in NMNAT1 cause Leber congenital amaurosis with e..:
Perrault, Isabelle
;
Hanein, Sylvain
;
Zanlonghi, Xavier
...
Nature Genetics. 44 (2012) 9 - p. 975-977 , 2012
Link:
https://doi.org/10.1038/..
?
12
The photoreceptor cell-specific nuclear receptor gene ( PNR..:
Gerber, Sylvie
;
Rozet, Jean-Michel
;
Takezawa, Shin-Ichiro
...
Human Genetics. 107 (2000) 3 - p. 276-284 , 2000
Link:
https://doi.org/10.1007/..
?
13
Leber Congenital Amaurosis:
Perrault, Isabelle
;
Rozet, Jean-Michel
;
Gerber, Sylvie
...
Molecular Genetics and Metabolism. 68 (1999) 2 - p. 200-208 , 1999
Link:
https://doi.org/10.1006/..
?
14
Age-related macular degeneration in grandparents of patient..:
Souied, Eric H
;
Ducroq, Dominique
;
Gerber, Sylvie
...
American Journal of Ophthalmology. 128 (1999) 2 - p. 173-178 , 1999
Link:
https://doi.org/10.1016/..
?
15
The ABCR Gene: A Major Disease Gene in Macular and Peripher..:
Rozet, Jean-Michel
;
Gerber, Sylvie
;
Souied, Eric
...
Molecular Genetics and Metabolism. 68 (1999) 2 - p. 310-315 , 1999
Link:
https://doi.org/10.1006/..
1-15