A. Gal's Profile

Role	Title	Level	Year	L/R
🦁	Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa 8 auth. A. Gal, Yun Li, Debra Thompson, Jessica Weir, U. Orth, S. Jacobson, ... E. Apfelstedt‐Sylla, D. Vollrath	9	2000	9 🦁
🐢	Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy 11 auth. S. Gu, Debra Thompson, C. Srikumari, B. Lorenz, U. Finckh, A. Nicoletti, ... K. Murthy, M. Rathmann, GOVINDASAMY KUMARAMANICKAVEL, M. Denton, A. Gal	9	1997	9 🐢
🐜	Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D 12 auth. H. Bolz, B. von Brederlow, A. Ramírez, E. Bryda, K. Kutsche, H. Nothwang, ... M. Seeliger, María Cabrera, M. Vila, Orfilio Pelaez Molina, A. Gal, C. Kubisch	9	2001	9 🐜
🐜	A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C 12 auth. E. Verpy, M. Leibovici, I. Zwaenepoel, X. Liu, A. Gal, N. Salem, ... A. Mansour, S. Blanchard, I. Kobayashi, B. Keats, R. Slim, C. Petit	8	2000	8 🐜
🐢	Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study 54 auth. E. Nelis, C. Broeckhoven, P. Jonghe, A. Löfgren, A. Vandenberghe, P. Latour, É. Guern, A. Brice, M. Mostacciuolo, F. Schiavon, F. Palau, S. Bort, M. Upadhyaya, M. Rocchi, N. Archidiacono, ... P. Mandich, E. Bellone, K. Silander, M. Savontaus, R. Navon, H. Goldberg-Stern, X. Estivill, V. Volpini, W. Friedl, K. Zerres, J. Tyson, S. Malcolm, B. Holmberg, G. Holmgren, E. Mariman, A. Gabreëls-Festen, C. Yapijakis, D. Vassilopoulos, C. Clark, N. Haites, P. Hilbert, L. Maldergem, B. Rautenstrauss, H. Grehl, R. Mountford, K. Mann, T. Bettecken, J. Burgunder, C. Hanemann, H. Müller, J. Hertz, D. Schorderet, T. Küntzer, C. Wolf, E. Kunert, F. Muntoni, P. Emmerick-Bock, U. Orth, A. Gal	8	1996	8 🐢
🐢	Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation 15 auth. K. Kutsche, H. Yntema, Alexander Brandt, I. Jantke, H. Nothwang, U. Orth, M. Boavida, D. David, J. Chelly, J. Fryns, ... C. Moraine, H. Ropers, B. Hamel, H. Bokhoven, A. Gal	8	2000	8 🐢
🐜	Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness 15 auth. N. Bech‐Hansen, M. Naylor, T. Maybaum, R. Sparkes, B. Koop, D. Birch, A. Bergen, C. Prinsen, R. Polomeno, A. Gal, ... A. Drack, M. Musarella, S. Jacobson, R. Young, R. Weleber	8	2000	8 🐜
🐜	Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 15 auth. D. Weil, A. El-Amraoui, S. Masmoudi, M. Mustapha, Y. Kikkawa, Sophie Lainé, S. Delmaghani, A. Adato, S. Nadifi, Zeineb Ben Zina, ... C. Hamel, A. Gal, H. Ayadi, H. Yonekawa, C. Petit	8	2003	8 🐜
🐢	A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese S. Fuchs, M. Nakazawa, M. Maw, M. Tamai, Y. Oguchi, A. Gal	8	1995	8 🐢
🐢	Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. 12 auth. Debra Thompson, P. Gyürüs, Laura L. Fleischer, E. Bingham, C. McHenry, E. A. Sylla, ... Eberhart Zrenner, Birgit Lorenz, J. Richards, S. Jacobson, P. Sieving, A. Gal	7	2000	7 🐢
🐜	Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 17 auth. C. Chakarova, Matthew M. Hims, H. Bolz, L. Abu-Safieh, Reshma J. Patel, M. Papaioannou, C. Inglehearn, T. Keen, C. Willis, A. Moore, ... T. Rosenberg, A. Webster, A. Bird, A. Gal, D. Hunt, E. Vithana, S. Bhattacharya	7	2002	7 🐜
🐜	Isolation of a candidate gene for Norrie disease by positional cloning 15 auth. W. Berger, A. Meindl, T. Pol, F. Cremers, H. Ropers, C. Döerner, A. Monaco, A. Bergen, R. Lebo, M. Warburg, ... L. Zergollern, B. Lorenz, A. Gal, E. Bleeker-Wagemakers, T. Meitinger	7	1992	7 🐜