María Isabel Alvarez-Mora

Affiliations
  • Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
ORCID: 0000-0003-3788-8915

Publications (19)

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.

Gene
Avec: I Madrigal , R Rabionet , M I Alvarez-Mora , A Sanchez , L Rodríguez-Revenga , X Estivill , M Mila

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Frontiers in aging neuroscience
Avec: Andrea Elias-Mas , Miriam Potrony , Jaume Bague , David J Cutler , Maria Isabel Alvarez-Mora , Teresa Torres , Tamara Barcos , Joan Anton Puig-Butille , Marta Rubio , Irene Madrigal , Susana Puig , Emily G Allen , Laia Rodriguez-Revenga

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

Genes, brain, and behavior
Avec: Maria I Alvarez-Mora , Petar Podlesniy , Ellen Gelpi , Renate Hukema , Irene Madrigal , Javier Pagonabarraga , Ramon Trullas , Montserrat Mila , Laia Rodriguez-Revenga

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Journal of medical genetics
Avec: Elena Martinez-Cayuelas , Fiona Blanco-Kelly , Fermina Lopez-Grondona , Saoud Tahsin Swafiri , Rosario Lopez-Rodriguez , Rebeca Losada-Del Pozo , Ignacio Mahillo-Fernandez , Beatriz Moreno , Maria Rodrigo-Moreno , Didac Casas-Alba , Aitor Lopez-Gonzalez , Sixto García-Miñaúr , Maria Ángeles Mori , Marta Pacio-Minguez , Emi Rikeros-Orozco , Fernando Santos-Simarro , Jaime Cruz-Rojo , Juan Francisco Quesada-Espinosa , Maria Teresa Sanchez-Calvin , Jaime Sanchez-Del Pozo , Raquel Bernado Fonz , Maria Isidoro-Garcia , Irene Ruiz-Ayucar , Maria Isabel Alvarez-Mora , Raquel Blanco-Lago , Begoña De Azua , Jesus Eiris , Juan Jose Garcia-Peñas , Belen Gil-Fournier , Carmen Gomez-Lado , Nadia Irazabal , Vanessa Lopez-Gonzalez , Irene Madrigal , Ignacio Malaga , Beatriz Martinez-Menendez , Soraya Ramiro-Leon , Maria Garcia-Hoyos , Pablo Prieto-Matos , Javier Lopez-Pison , Sergio Aguilera-Albesa , Sara Alvarez , Alberto Fernández-Jaén , Isabel Llano-Rivas , Blanca Gener-Querol , Carmen Ayuso , Ana Arteche-Lopez , Maria Palomares-Bralo , Anna Cueto-González , Irene Valenzuela , Antonio Martinez-Monseny , Isabel Lorda-Sanchez , Berta Almoguera

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).

Journal of clinical medicine
Avec: Maria Isabel Alvarez-Mora , Ines Agusti , Robin Wijngaard , Estefania Martinez-Barrios , Tamara Barcos , Aina Borras , Sara Peralta , Marta Guimera , Ana Goday , Dolors Manau , Laia Rodriguez-Revenga

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from

Antioxidants (Basel, Switzerland)
Avec: Maria Isabel Alvarez-Mora , Gloria Garrabou , Tamara Barcos , Francisco Garcia-Garcia , Ruben Grillo-Risco , Emma Peruga , Laura Gort , Sergi Borrego-Écija , Raquel Sanchez-Valle , Judith Canto-Santos , Paula Navarro-Navarro , Laia Rodriguez-Revenga

Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology.

Genes
Avec: Laia Rodriguez-Revenga , Maria Isabel Alvarez-Mora

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Genes
Avec: María Isabel Alvarez-Mora , Laia Rodríguez-Revenga , Meritxell Jodar , Miriam Potrony , Aurora Sanchez , Celia Badenas , Josep Oriola , José Luis Villanueva-Cañas , Esteban Muñoz , Francesc Valldeoriola , Ana Cámara , Yaroslau Compta , Mar Carreño , María Jose Martí , Raquel Sánchez-Valle , Irene Madrigal

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.

Cells
Avec: Maria Isabel Alvarez-Mora , Glòria Garrabou , Laura Molina-Porcel , Ruben Grillo-Risco , Francisco Garcia-Garcia , Tamara Barcos , Judith Cantó-Santos , Laia Rodriguez-Revenga

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.

Mitochondrion
Avec: Maria Isabel Alvarez-Mora , Cristina Santos , Lidia Carreño-Gago , Irene Madrigal , Maria Isabel Tejada , Francisco Martinez , Silvia Izquierdo-Alvarez , Elena Garcia-Arumi , Montserrat Mila , Laia Rodriguez-Revenga

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.

International journal of cancer
Avec: Keyvan Torabi , Pau Erola , Maria Isabel Alvarez-Mora , Marcos Díaz-Gay , Queralt Ferrer , Antoni Castells , Sergi Castellví-Bel , Montserrat Milà , Juan José Lozano , Rosa Miró , Thomas Ried , Immaculada Ponsa , Jordi Camps

Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 Patients.

Molecular neurobiology
Avec: Maria Isabel Alvarez-Mora , Petar Podlesniy , Teresa Riazuelo , Laura Molina-Porcel , Ellen Gelpi , Laia Rodriguez-Revenga

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Journal of clinical medicine
Avec: Miriam Potrony , Antoni Borrell , Narcís Masoller , Alfons Nadal , Leonardo Rodriguez-Carunchio , Karmele Saez de Gordoa Elizalde , Juan Francisco Quesada-Espinosa , Jose Luis Villanueva-Cañas , Montse Pauta , Meritxell Jodar , Irene Madrigal , Celia Badenas , Maria Isabel Alvarez-Mora , Laia Rodriguez-Revenga

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.

Clinical genetics
Avec: Maria Isabel Alvarez-Mora , Anne-Laure Todeschini , Sandrine Caburet , Lilach Peled Perets , Montserrat Mila , Johnny S Younis , Stavit Shalev , Reiner A Veitia

Novel Compound Heterozygous Mutation in

Genes
Avec: Maria Isabel Alvarez-Mora , Jordi Corominas , Christian Gilissen , Aurora Sanchez , Irene Madrigal , Laia Rodriguez-Revenga

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Genes
Avec: Ana Arteche-López , Maria José Gómez Rodríguez , Maria Teresa Sánchez Calvin , Juan Francisco Quesada-Espinosa , Jose Miguel Lezana Rosales , Carmen Palma Milla , Irene Gómez-Manjón , Irene Hidalgo Mayoral , Rubén Pérez de la Fuente , Arancha Díaz de Bustamante , María Teresa Darnaude , Belén Gil-Fournier , Soraya Ramiro León , Patricia Ramos Gómez , Olalla Sierra Tomillo , Alexandra Juárez Rufián , Maria Isabel Arranz Cano , Rebeca Villares Alonso , Pablo Morales-Pérez , Alejandro Segura-Tudela , Ana Camacho , Noemí Nuñez , Rogelio Simón , Marta Moreno-García , Maria Isabel Alvarez-Mora

Heterozygous and Homozygous Variants in

International journal of molecular sciences
Avec: Maria Isabel Alvarez-Mora , Victor Antonio Blanco-Palmero , Juan Francisco Quesada-Espinosa , Ana Rosa Arteche-Lopez , Sara Llamas-Velasco , Carmen Palma Milla , Jose Miguel Lezana Rosales , Irene Gomez-Manjon , Aurelio Hernandez-Lain , Justino Jimenez Almonacid , Belén Gil-Fournier , Soraya Ramiro-León , Marta González-Sánchez , Alejandro Octavio Herrero-San Martín , David Andrés Pérez-Martínez , Estrella Gómez-Tortosa , Eva Carro , Fernando Bartolomé , Maria Jose Gomez-Rodriguez , María Teresa Sanchez-Calvin , Alberto Villarejo-Galende , Marta Moreno-Garcia

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of

Genes
Avec: Maria Jose Gómez-Rodríguez , Montserrat Morales-Conejo , Ana Arteche-López , Maria Teresa Sánchez-Calvín , Juan Francisco Quesada-Espinosa , Irene Gómez-Manjón , Carmen Palma-Milla , Jose Miguel Lezana-Rosales , Ruben Pérez de la Fuente , Maria-Luisa Martin-Ramos , Manuela Fernández-Guijarro , Marta Moreno-García , Maria Isabel Alvarez-Mora

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

Journal of ovarian research
Avec: Ines Agusti , Maria Isabel Alvarez-Mora , Robin Wijngaard , Aina Borras , Tamara Barcos , Sara Peralta , Marta Guimera , Anna Goday , Dolors Manau , Laia Rodriguez-Revenga

Réseau de co-auteurs

Maria Isabel Alvarez-Mora 16 collaborations
Laia Rodriguez-Revenga 11 collaborations
Irene Madrigal 7 collaborations
Tamara Barcos 5 collaborations
Juan Francisco Quesada-Espinosa 5 collaborations
Miriam Potrony 3 collaborations
Montserrat Mila 3 collaborations
Petar Podlesniy 2 collaborations
Ellen Gelpi 2 collaborations
Ines Agusti 2 collaborations
Robin Wijngaard 2 collaborations
Aina Borras 2 collaborations
Sara Peralta 2 collaborations
Marta Guimera 2 collaborations
Dolors Manau 2 collaborations
Francisco Garcia-Garcia 2 collaborations
Ruben Grillo-Risco 2 collaborations
Meritxell Jodar 2 collaborations
Aurora Sanchez 2 collaborations
Celia Badenas 2 collaborations
Laura Molina-Porcel 2 collaborations
Ana Arteche-López 2 collaborations
Jose Miguel Lezana Rosales 2 collaborations
Carmen Palma Milla 2 collaborations
Irene Gómez-Manjón 2 collaborations
Belén Gil-Fournier 2 collaborations
Marta Moreno-García 2 collaborations
I Madrigal 1 collaboration
R Rabionet 1 collaboration
M I Alvarez-Mora 1 collaboration
A Sanchez 1 collaboration
L Rodríguez-Revenga 1 collaboration
X Estivill 1 collaboration
M Mila 1 collaboration
Andrea Elias-Mas 1 collaboration
Jaume Bague 1 collaboration
David J Cutler 1 collaboration
Teresa Torres 1 collaboration
Joan Anton Puig-Butille 1 collaboration
Marta Rubio 1 collaboration
Susana Puig 1 collaboration
Emily G Allen 1 collaboration
Maria I Alvarez-Mora 1 collaboration
Renate Hukema 1 collaboration
Javier Pagonabarraga 1 collaboration
Ramon Trullas 1 collaboration
Elena Martinez-Cayuelas 1 collaboration
Fiona Blanco-Kelly 1 collaboration
Fermina Lopez-Grondona 1 collaboration
Saoud Tahsin Swafiri 1 collaboration
Rosario Lopez-Rodriguez 1 collaboration
Rebeca Losada-Del Pozo 1 collaboration
Ignacio Mahillo-Fernandez 1 collaboration
Beatriz Moreno 1 collaboration
Maria Rodrigo-Moreno 1 collaboration
Didac Casas-Alba 1 collaboration
Aitor Lopez-Gonzalez 1 collaboration
Sixto García-Miñaúr 1 collaboration
Maria Ángeles Mori 1 collaboration
Marta Pacio-Minguez 1 collaboration
Emi Rikeros-Orozco 1 collaboration
Fernando Santos-Simarro 1 collaboration
Jaime Cruz-Rojo 1 collaboration
Maria Teresa Sanchez-Calvin 1 collaboration
Jaime Sanchez-Del Pozo 1 collaboration
Raquel Bernado Fonz 1 collaboration
Maria Isidoro-Garcia 1 collaboration
Irene Ruiz-Ayucar 1 collaboration
Raquel Blanco-Lago 1 collaboration
Begoña De Azua 1 collaboration
Jesus Eiris 1 collaboration
Juan Jose Garcia-Peñas 1 collaboration
Belen Gil-Fournier 1 collaboration
Carmen Gomez-Lado 1 collaboration
Nadia Irazabal 1 collaboration
Vanessa Lopez-Gonzalez 1 collaboration
Ignacio Malaga 1 collaboration
Beatriz Martinez-Menendez 1 collaboration
Soraya Ramiro-Leon 1 collaboration
Maria Garcia-Hoyos 1 collaboration
Pablo Prieto-Matos 1 collaboration
Javier Lopez-Pison 1 collaboration
Sergio Aguilera-Albesa 1 collaboration
Sara Alvarez 1 collaboration
Alberto Fernández-Jaén 1 collaboration
Isabel Llano-Rivas 1 collaboration
Blanca Gener-Querol 1 collaboration
Carmen Ayuso 1 collaboration
Ana Arteche-Lopez 1 collaboration
Maria Palomares-Bralo 1 collaboration
Anna Cueto-González 1 collaboration
Irene Valenzuela 1 collaboration
Antonio Martinez-Monseny 1 collaboration
Isabel Lorda-Sanchez 1 collaboration
Berta Almoguera 1 collaboration
Estefania Martinez-Barrios 1 collaboration
Ana Goday 1 collaboration
Gloria Garrabou 1 collaboration
Emma Peruga 1 collaboration
Laura Gort 1 collaboration
Sergi Borrego-Écija 1 collaboration
Raquel Sanchez-Valle 1 collaboration
Judith Canto-Santos 1 collaboration
Paula Navarro-Navarro 1 collaboration
Laia Rodríguez-Revenga 1 collaboration
Josep Oriola 1 collaboration
José Luis Villanueva-Cañas 1 collaboration
Esteban Muñoz 1 collaboration
Francesc Valldeoriola 1 collaboration
Ana Cámara 1 collaboration
Yaroslau Compta 1 collaboration
Mar Carreño 1 collaboration
María Jose Martí 1 collaboration
Raquel Sánchez-Valle 1 collaboration
Glòria Garrabou 1 collaboration
Judith Cantó-Santos 1 collaboration
Cristina Santos 1 collaboration
Lidia Carreño-Gago 1 collaboration
Maria Isabel Tejada 1 collaboration
Francisco Martinez 1 collaboration
Silvia Izquierdo-Alvarez 1 collaboration
Elena Garcia-Arumi 1 collaboration
Keyvan Torabi 1 collaboration
Pau Erola 1 collaboration
Marcos Díaz-Gay 1 collaboration
Queralt Ferrer 1 collaboration
Antoni Castells 1 collaboration
Sergi Castellví-Bel 1 collaboration
Montserrat Milà 1 collaboration
Juan José Lozano 1 collaboration
Rosa Miró 1 collaboration
Thomas Ried 1 collaboration
Immaculada Ponsa 1 collaboration
Jordi Camps 1 collaboration
Teresa Riazuelo 1 collaboration
Antoni Borrell 1 collaboration
Narcís Masoller 1 collaboration
Alfons Nadal 1 collaboration
Leonardo Rodriguez-Carunchio 1 collaboration
Karmele Saez de Gordoa Elizalde 1 collaboration
Jose Luis Villanueva-Cañas 1 collaboration
Montse Pauta 1 collaboration
Anne-Laure Todeschini 1 collaboration
Sandrine Caburet 1 collaboration
Lilach Peled Perets 1 collaboration
Johnny S Younis 1 collaboration
Stavit Shalev 1 collaboration
Reiner A Veitia 1 collaboration
Jordi Corominas 1 collaboration
Christian Gilissen 1 collaboration
Maria José Gómez Rodríguez 1 collaboration
Maria Teresa Sánchez Calvin 1 collaboration
Irene Hidalgo Mayoral 1 collaboration
Rubén Pérez de la Fuente 1 collaboration
Arancha Díaz de Bustamante 1 collaboration
María Teresa Darnaude 1 collaboration
Soraya Ramiro León 1 collaboration
Patricia Ramos Gómez 1 collaboration
Olalla Sierra Tomillo 1 collaboration
Alexandra Juárez Rufián 1 collaboration
Maria Isabel Arranz Cano 1 collaboration
Rebeca Villares Alonso 1 collaboration
Pablo Morales-Pérez 1 collaboration
Alejandro Segura-Tudela 1 collaboration
Ana Camacho 1 collaboration
Noemí Nuñez 1 collaboration
Rogelio Simón 1 collaboration
Victor Antonio Blanco-Palmero 1 collaboration
Ana Rosa Arteche-Lopez 1 collaboration
Sara Llamas-Velasco 1 collaboration
Irene Gomez-Manjon 1 collaboration
Aurelio Hernandez-Lain 1 collaboration
Justino Jimenez Almonacid 1 collaboration
Soraya Ramiro-León 1 collaboration
Marta González-Sánchez 1 collaboration
Alejandro Octavio Herrero-San Martín 1 collaboration
David Andrés Pérez-Martínez 1 collaboration
Estrella Gómez-Tortosa 1 collaboration
Eva Carro 1 collaboration
Fernando Bartolomé 1 collaboration
Maria Jose Gomez-Rodriguez 1 collaboration
María Teresa Sanchez-Calvin 1 collaboration
Alberto Villarejo-Galende 1 collaboration
Marta Moreno-Garcia 1 collaboration
Maria Jose Gómez-Rodríguez 1 collaboration
Montserrat Morales-Conejo 1 collaboration
Maria Teresa Sánchez-Calvín 1 collaboration
Carmen Palma-Milla 1 collaboration
Jose Miguel Lezana-Rosales 1 collaboration
Ruben Pérez de la Fuente 1 collaboration
Maria-Luisa Martin-Ramos 1 collaboration
Manuela Fernández-Guijarro 1 collaboration
Anna Goday 1 collaboration