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Daniel Schorderet
Daniel Schorderet
Professor, faculty of Biology and Medicine, Lausanne, Switzerland
E-mailová adresa ověřena na: unil.ch
Název
Citace
Citace
Rok
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
110532021
A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia
T Borsello, PGH Clarke, L Hirt, A Vercelli, M Repici, DF Schorderet, ...
Nature medicine 9 (9), 1180-1186, 2003
8182003
Cell-permeable peptide inhibitors of JNK: novel blockers of β-cell death
C Bonny, A Oberson, S Negri, C Sauser, DF Schorderet
Diabetes 50 (1), 77-82, 2001
6992001
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
FL Munier, E Korvatska, A Djemaï, DL Paslier, L Zografos, G Pescia, ...
Nature genetics 15 (3), 247-251, 1997
6441997
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
M Huber, I Rettler, K Bernasconi, E Frenk, SPM Lavrijsen, M Ponec, A Bon, ...
Science 267 (5197), 525-528, 1995
5941995
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ...
Nature genetics 22 (2), 199-202, 1999
5251999
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
E Nelis, C Van Broeckhoven, P De Jonghe, A Löfgren, A Vandenberghe, ...
European Journal of Human Genetics 4 (1), 25-33, 1996
5181996
Zebrafish: Housing and husbandry recommendations
P Aleström, L D’Angelo, PJ Midtlyng, DF Schorderet, S Schulte-Merker, ...
Laboratory animals 54 (3), 213-224, 2020
4512020
Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
S Biswas, FL Munier, J Yardley, N Hart-Holden, R Perveen, P Cousin, ...
Human molecular genetics 10 (21), 2415-2423, 2001
4482001
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases
F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ...
American journal of human genetics 55 (2), 225, 1994
3701994
The γ-crystallins and human cataracts: a puzzle made clearer
E Héon, M Priston, DF Schorderet, GD Billingsley, PO Girard, N Lubsen, ...
The American Journal of Human Genetics 65 (5), 1261-1267, 1999
3201999
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Z Yang, Y Chen, C Lillo, J Chien, Z Yu, M Michaelides, M Klein, ...
The Journal of clinical investigation 118 (8), 2908-2916, 2008
2892008
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
A Li, X Jiao, FL Munier, DF Schorderet, W Yao, F Iwata, M Hayakawa, ...
The American Journal of Human Genetics 74 (5), 817-826, 2004
2792004
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
2732009
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
JC Fleming, E Tartaglini, MP Steinkamp, DF Schorderet, N Cohen, ...
Nature genetics 22 (3), 305-308, 1999
2531999
Methylation silencing and mutations of the p14ARF and p16INK4a genes in colon cancer
N Burri, P Shaw, H Bouzourene, I Sordat, B Sordat, M Gillet, D Schorderet, ...
Laboratory investigation 81 (2), 217-229, 2001
2512001
BIGH3 mutation spectrum in corneal dystrophies
FL Munier, BE Frueh, P Othenin-Girard, S Uffer, P Cousin, MX Wang, ...
Investigative ophthalmology & visual science 43 (4), 949-954, 2002
2462002
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
LY Marmorstein, FL Munier, Y Arsenijevic, DF Schorderet, PJ McLaughlin, ...
Proceedings of the National Academy of Sciences 99 (20), 13067-13072, 2002
2352002
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
C Zeitz, B Kloeckener-Gruissem, U Forster, S Kohl, I Magyar, B Wissinger, ...
The American Journal of Human Genetics 79 (4), 657-667, 2006
2052006
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
F Macari, M Landau, P Cousin, B Mevorah, S Brenner, R Panizzon, ...
The American Journal of Human Genetics 67 (5), 1296-1301, 2000
1872000
Systém momentálně nemůže danou operaci provést. Zkuste to znovu později.
Články 1–20