BetterScholar BetterScholar
11
Role
Title
Level Year L/R
🐜 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
🐜
🐢 The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
10 auth. A. Cuesta, L. Pedrola, T. Sevilla, J. García-Planells, M. J. Chumillas, F. Mayordomo, ... E. Leguern, I. Marín, J. Vílchez, F. Palau
8 2002
8
🐢
🐜 The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease
14 auth. M. Olivares, Alexander Neef, G. Castillejo, G. Palma, V. Varea, A. Capilla, F. Palau, E. Nova, A. Marcos, I. Polanco, ... C. Ribes-Koninckx, L. Ortigosa, L. Izquierdo, Y. Sanz
8 2014
8
🐜
🐢 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
L. Pedrola, A. Espert, Xingyao Wu, R. Claramunt, M. Shy, F. Palau
7 2005
7
🐢
🐢 Frataxin interacts functionally with mitochondrial electron transport chain proteins.
P. González-Cabo, R. Vázquez‐Manrique, M. Garcia-Gimeno, P. Sanz, F. Palau
7 2005
7
🐢
🐢 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
12 auth. S. Bort, E. Nelis, V. Timmerman, T. Sevilla, A. Cruz‐Martínez, F. Martínez, ... J. Millán, J. Arpa, J. Vílchez, F. Prieto, C. Broeckhoven, F. Palau
7 1997
7
🐢
🐜 Influence of Milk-Feeding Type and Genetic Risk of Developing Coeliac Disease on Intestinal Microbiota of Infants: The PROFICEL Study
17 auth. G. De Palma, A. Capilla, E. Nova, G. Castillejo, V. Varea, T. Pozo, J. A. Garrote, I. Polanco, A. López, C. Ribes-Koninckx, ... A. Marcos, M. D. García-Novo, C. Calvo, L. Ortigosa, L. Peña-Quintana, F. Palau, Y. Sanz
7 2012
7
🐜
🐜 Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
19 auth. Feng Zhang, P. Seeman, Pengfei Liu, M. Weterman, C. Gonzaga‐Jauregui, C. Towne, S. Batish, E. De Vriendt, P. de Jonghe, B. Rautenstrauss, ... K. Krause, M. Khajavi, Jan Posádka, A. Vandenberghe, F. Palau, L. Van Maldergem, F. Baas, V. Timmerman, J. Lupski
6 2010
6
🐜
🐜 Influence of Environmental and Genetic Factors Linked to Celiac Disease Risk on Infant Gut Colonization by Bacteroides Species
17 auth. Ester Sánchez, G. De Palma, A. Capilla, E. Nova, T. Pozo, G. Castillejo, V. Varea, A. Marcos, J. A. Garrote, I. Polanco, ... A. López, C. Ribes-Koninckx, M. D. García-Novo, C. Calvo, L. Ortigosa, F. Palau, Y. Sanz
6 2011
6
🐜
🐜 Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
7 auth. T. Sevilla, A. Cuesta, M. J. Chumillas, F. Mayordomo, L. Pedrola, F. Palau, ... J. Vílchez
6 2003
6
🐜
🐜 Gut microbiota trajectory in early life may predict development of celiac disease
8 auth. M. Olivares, A. Walker, A. Capilla, Alfonso Benítez-Páez, F. Palau, J. Parkhill, ... G. Castillejo, Y. Sanz
6 2018
6
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