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J Montoya
Observed names:
J. Montoya,
Montoya, J
Institution:
Hospital Sant Joan de Déu Barcelona
Observed institutions:
Hospital Sant Joan de Déu Barcelona,
Universidad de Zaragoza,
Centre for Biomedical Network Research on Rare Diseases,
Instituto Aragonés de Ciencias de la Salud,
Universitat de Barcelona
OpenAlex ID:
A5111809244
A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation
2010
·
M. D. Herrero-Martin
, T. Ayuso
, et al.
·
Journal of Neurology Neurosurgery & Psychiatry
·
13
[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].
1995
·
A Barrientos
, J Casademont
, et al.
·
PubMed
·
10
[Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus].
2006
·
M I Pérez López-Fraile
, R Barrena
, et al.
·
PubMed
·
5
[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
2007
·
R Delgado-Sánchez
, A Zárate-Moysen
, et al.
·
PubMed
·
4
[Mitochondrial respiratory chain deficiency may present as multiple sclerosis].
1998
·
C Iñiguez
, J Arenas
, et al.
·
PubMed
·
3
Comparison of antibody clones in cerebrospinal fluid of patients with tuberculous meningitis before and during chemotherapy using agarose gel isoelectric focusing with antigen immunoblotting
1991
·
J Montoya
·
Journal of Neuroimmunology
·
1
P91 – 2939: A novel mutation in the TK2 gene and clinical phenotype in Spanish patients
2015
·
F.J. Ramos
, J. Dominguez
, et al.
·
European Journal of Paediatric Neurology
1FC3.4 Mutation load of m.3243A>G in tRNALeu in different samples in a family affected of MELAS
2011
·
M. del Mar O'Callaghan Gordo
, M. Pineda
, et al.
·
European Journal of Paediatric Neurology
Mitochondrial encephalomyopathy, lactic acidosis and cerebrovascular accidents (MELAS) in children with the A3243G mutation of the tRNA((Leu)(UUR)) gene of DNA mitochondria
2000
·
L. Coelho Miranda
, Ana Playán
, et al.
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Works count:
10
Citation count:
36
H-index:
4
I10-index:
2
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