Amalia Martı́nez-Mir - Publications, H-index & Citations

Amalia Martı́nez-Mir

consejo superior de investigaciones cientificas (csic)

26H指数

65论文数

2.4K被引数

收录论文 42

发表时间

Impaired synaptic plasticity in behaving mice by inactivation of presenilin and accumulation of the neurexin gamma-secretase proteolytic substrate 通过失活 presenilin 和积累 neurexin (γ-分泌酶蛋白水解底物) 导致行为小鼠的突触可塑性受损

EXPERIMENTAL NEUROLOGY

IF4.2

2025-07-01

PREAI

Arias-Aragon, Francisco; Sanchez-Hidalgo, Ana C.; Gruart, Agnes; Martinez-Mir, Amalia; Delgado-Garcia, Jose M.; Scholl, Francisco G.

Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism

MOLECULAR BRAIN

IF2.9

2025-03-14

OAAI

Arias-Aragon, Francisco; Robles-Lanuza, Estefania; Sanchez-Gomez, Angela; Martinez-Mir, Amalia; Scholl, Francisco G.

Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder 探索自闭症谱系障碍儿童的基因检测要求，遗传改变和临床关联

EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

IF4.9

2024-04-08

OAAI

Garrido-Torres, Nathalia; Rodriguez, Renata Marques; Alemany-Navarro, Maria; Sanchez-Garcia, Javier; Garcia-Cerro, Susana; Ayuso, Maria Irene; Gonzalez-Meneses, Antonio; Martinez-Mir, Amalia; Ruiz-Veguilla, Miguel; Crespo-Facorro, Benedicto

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

MOVEMENT DISORDERS

IF7.6

2016-08-01

PREAI

Tristan-Clavijo, Enriqueta; Scholl, Francisco G.; Macaya, Alfons; Iglesias, Gemma; Rojas, Ana M.; Lucas, Miguel; Castellano, Antonio; Martinez-Mir, Amalia

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

AUTISM RESEARCH

IF5.6

2016-07-15

PREAI

Torrico, Barbara; Chiocchetti, Andreas G.; Bacchelli, Elena; Trabetti, Elisabetta; Hervas, Amaia; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda; Yousaf, Afsheen; Duketis, Eftichia; Freitag, Christine M.; Caballero-Andaluz, Rafaela; Martinez-Mir, Amalia; Scholl, Francisco G.; Ribases, Marta; Battaglia, Agatino; Malerba, Giovanni; Delorme, Richard; Benabou, Marion; Maestrini, Elena; Bourgeron, Thomas; Cormand, Bru; Toma, Claudio

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

NEUROBIOLOGY OF AGING

IF3.5

2015-12-01

PREAI

Tristan-Clavijo, Enriqueta; Camacho-Garcia, Rafael J.; Robles-Lanuza, Estefania; Ruiz, Agustin; van der Zee, Julie; Van Broeckhoven, Christine; Hernandez, Isabel; Martinez-Mir, Amalia; Scholl, Francisco G.

Genetic study of NRXN1β variants in Spanish patients with schizophrenia

SCHIZOPHRENIA RESEARCH

IF3.5

2014-11-01

PREAI

Abasolo, Nerea; Roig, Barbara; Martorell, Lourdes; Martinez-Leal, Rafael; Aguilera, Francisco; Jesus Camacho-Garcia, Rafael; Orejuela, Carmen; Scholl, Francisco G.; Martinez-Mir, Amalia; Vilella, Elisabet

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2014-06-01

OAAI

Furniss, Megan; Higgins, Claire A.; Martinez-Mir, Amalia; Horev, Liran; Petukhova, Lynn; Stanimirovic, Andrija; Miljkovic, Jovan; Zlotogorski, Abraham; Christiano, Angela M.

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

JOURNAL OF CLINICAL NEUROLOGY

IF3.1

2014-01-01

OAAI

Mondejar, Rufino; Manuel Garcia-Moreno, Jose; Rubio, Rocio; Solano, Francisca; Delgado, Mercedes; Garcia-Bravo, Begona; Jose Rios-Martin, Juan; Martinez-Mir, Amalia; Lucas, Miguel

Genetic Study of Neurexin and Neuroligin Genes in Alzheimer's Disease 阿尔茨海默病Neurexin和Neuroligin基因的遗传学研究

JOURNAL OF ALZHEIMERS DISEASE

IF3.1

2013-04-17

PREAI

Martinez-Mir, Amalia; Gonzalez-Perez, Antonio; Gayan, Javier; Antunez, Carmen; Marin, Juan; Boada, Merce; Maria Lopez-Arrieta, Jesus; Fernandez, Evaristo; Ramirez-Lorca, Reposo; Eugenia Saez, Maria; Ruiz, Agustin; Scholl, Francisco G.; Miguel Real, Luis

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

NEUROBIOLOGY OF DISEASE

IF5.6

2012-07-01

PREAI

Camacho-Garcia, Rafael J.; Inmaculada Planelles, Ma; Margalef, Mar; Pecero, Maria L.; Martinez-Leal, Rafael; Aguilera, Francisco; Vilella, Elisabet; Martinez-Mir, Amalia; Scholl, Francisco G.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation 常染色体隐性遗传性低旋毛症的全基因组连锁分析确定了一种新的P2RY5突变

GENOMICS

IF3

2008-11-01

OAAI

Petukhova, Lynn; Sousa, Edilson C., Jr.; Martinez-Mir, Amalia; Vitebsky, Anna; dos Santos, Lina G.; Shapiro, Lawrence; Haynes, Chad; Gordon, Derek; Shimomura, Yutaka; Christiano, Angela M.

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2007-04-01

PREAI

O'Regan, G. M.; Zurada, J. .; Martinez-Mir, A.; Christiano, A. M.; Irvine, A. D.

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2007-02-01

112

OAAI

Martinez-Mir, Amalia; Zlotogorski, Abraham; Gordon, Derek; Petukhova, Lynn; Mo, Jianhong; Gilliam, T. Conrad; Londono, Douglas; Haynes, Chad; Ott, Jurg; Hordinsky, Maria; Nanova, Krassimira; Norris, David; Price, Vera; Duvic, Madeleine; Christiano, Angela M.

A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2006-03-14

PREAI

Ashoor, G.; Masse, M.; Luciano, L. M. Garcia; Sheffer, R.; Martinez-Mir, A.; Christiano, A. M.; Zlotogorski, A.

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2006-01-01

PREAI

Chuang, GS; Martinez-Mir, A; Engler, DE; Gmyrek, RF; Zlotogorski, A; Christiano, AM

Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions

JOURNAL OF DERMATOLOGICAL SCIENCE

IF4

2005-10-01

PREAI

Ashoor, GG; Greenstein, RM; Lam, H; Martinez-Mir, A; Zlotogorski, A; Christiano, AM

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2005-07-01

PREAI

Massé, M; Martinez-Mir, A; Lam, H; Geraghty, MT; Christiano, AM

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2005-05-01

PREAI

Massé, M; Cserhalmi-Friedman, PB; Falanga, V; Celebi, JT; Martinez-Mir, A; Christiano, AM

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

IF11.8

2005-03-01

OAAI

Chuang, GS; Martinez-Mir, A; Geyer, A; Engler, DE; Glaser, B; Cserhalmi-Friedman, PB; Gordon, D; Horev, L; Lukash, B; Herman, E; Cid, MP; Brenner, S; Landau, M; Sprecher, E; Muret, MPG; Christiano, AM; Zlotogorski, A

研究方向