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Gerber, Sylvie
219  results:
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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..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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