Montserrat Milà - Concepedia

Author

Montserrat Milà

Hospital Clínic de Barcelona ORCID

Also Known As

Ana Carri, Asunción Martinez-Descals, C. L. Franke, M MILA, M Martorell, M Mila, M Milà, M Milá, M. Mila, M. Milà

190

Publications

6.1K

Citations

H-Index

144

Concepts

All Affiliations

Hospital Clínic de Barcelona Consorci Institut D'Investigacions Biomediques August Pi I Sunyer Centre for Biomedical Network Research on Rare Diseases Universitat de Barcelona Instituto de Investigación de Enfermedades Raras

About

Montserrat Milà is an author at Hospital Clínic de Barcelona specializing in medicine, genetics, and fragile x spectrum.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	26	50	2.2K
2	Natural Sciences	5	5	166
3	Education	2	2	38
4	Engineering	1	1	30
5	Health Sciences	1	1	25

Montserrat Milà

102

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families Laia Rodríguez‐Revenga, Irene Madrigal, Javier Pagonabarraga, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyFragile X Spectrum	2009	316
A melanoma-associated germline mutation in exon 1β inactivates p14ARF Helen Rizos, Susana Puig, Célia Bádenas, Oncogene Skin CancerMedicineMelanomaPathologyCancer Genetics	2001	173
Role of the <i>CDKN2A</i> Locus in Patients With Multiple Primary Melanomas Susana Puig, Josep Malvehy, Célia Bádenas, Journal of Clinical Oncology	2005	145
Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria Célia Bádenas, Manuel Praga, Bárbara Tazón‐Vega, Journal of the American Society of Nephrology	2002	125
REM sleep behavior disorder and vocal cord paralysis in Machado‐Joseph disease Álex Iranzo, Esteban Muñoz, Joan Santamaría, Movement Disorders Sleep DisordersParasomniasBilateral VcapVoice DisordersPhoniatrics	2003	114
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. Paolo Gasparini, Xavier Estivill, Antonio Totaro, PubMed	1997	109
Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families A. Totaro, P. Gasparini, X. Estivill, European Journal of Human Genetics	1997	105
Brain-derived neurotrophic factor modulates the severity of cognitive alterations induced by mutant huntingtin: Involvement of phospholipaseCγ activity and glutamate receptor expression Albert Giralt, T. Rodrigo, E. Martin, Neuroscience Synaptic PlasticityNeurodegenerative DiseasesMolecular NeuroscienceBrain DevelopmentMutant Huntingtin	2008	103
A double‐blind, parallel, multicenter comparison of <scp>L</scp>‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys Maria Giulia Torrioli, S. Vernacotola, Laura Peruzzi, American Journal of Medical Genetics Part A	2008	101
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. H. Kruyer, Montserrat Milà, G. Glóver, PubMed	1994	96

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