J. Molano

发表

PLP1 gene analysis in 88 patients with leukodystrophy

J. Nevado, E. Vallespín, C. Sierra, 2013, Clinical genetics.

Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease

P. Martínez-Montero, J. Molano, L. Barrio, 2013, Neuropharmacology.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

J. Millán, S. Borrego, M. Trujillo-Tiebas, 2016 .

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

J. O’Neill, R. Torres, J. Puig, 2000, Human mutation.

Directional coupling of oligodendrocyte connexin‐47 and astrocyte connexin‐43 gap junctions

O. Millet, P. Martínez-Montero, J. Molano, 2018, Glia.

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

J. Molano, J. Solera, R. Granell, 1992, American journal of human genetics.

Molecular basis of hypoxanthine‐guanine phosphoribosyltransferase deficiency in thirteen Spanish families

J. O’Neill, R. Torres, J. Puig, 2000 .

[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].

P. García-Pavía, F. Kontny, J. Molano, 2007, Revista espanola de cardiologia.

Screening of Specific Gene Mutations Associated with Cystic Fibrosis

T. García-Mendiola, F. Pariente, E. Lorenzo, 2014 .

Electroretinogram in Duchenne/Becker muscular dystrophy.

I. Pascual-Castroviejo, J. Molano, S. P. Pascual Pascual, 1998, Pediatric neurology.

Hypertrophyc Cardiomyopathy: Infrequent Mutation of the Cardiac Beta-Myosin Heavy-Chain Gene

R. Peinado, J. Molano, J. L. Merino, 2019 .

Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosis

Bruno A. Cisterna, K. Willecke, L. Cea, 2016, Cellular and Molecular Life Sciences.

Partial Deletion of EMD Gene in a Patient With Emery-Dreifuss Muscular Dystrophy

S. Pascual-Pascual, L. Fernández, P. Martínez-Montero, 2012 .

Moroccan consanguineous family with Becker myotonia and review

S. Elalaoui, A. Sefiani, J. Molano, 2011, Annals of Indian Academy of Neurology.

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

F. Portillo, S. Pascual-Pascual, J. Arpa, 2012, Neuromuscular Disorders.

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

M. Baiget, S. Pascual-Pascual, J. Juan-Mateu, 2013, PloS one.

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.

P. Lapunzina, J. Molano, M. Saénz de Pipaón, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Domain Interactions in the Yeast ATP Binding Cassette Transporter Ycf1p: Intragenic Suppressor Analysis of Mutations in the Nucleotide Binding Domains

J. Falcón-Pérez, J. Molano, P. Eraso, 2001, Journal of bacteriology.

Functional Domain Analysis of the Yeast ABC Transporter Ycf1p by Site-directed Mutagenesis*

J. Falcón-Pérez, J. Molano, P. Eraso, 1999, The Journal of Biological Chemistry.

Genetic basis of end‐stage hypertrophic cardiomyopathy

B. Bornstein, P. García-Pavía, R. Garesse, 2011, European journal of heart failure.

Mutations in the hypoxanthine-guanine phosphoribosyltransferase gene in Spanish HPRT deficient families.

J. O’Neill, R. Torres, J. Puig, 2000, Advances in experimental medicine and biology.

[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER].

S. Borrego, J. Molano, Javier García Planells, 2011, Medicina clinica.

Screening for cystic fibrosis mutations in Spanish patients.

B. Ezquieta, J. Molano, R. Granell, 1994, Clinica chimica acta; international journal of clinical chemistry.

A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease

P. Martínez-Montero, M. Muñoz-Calero, L. Martorell, 2019, Journal of the Neurological Sciences.

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

P. Lapunzina, I. L. Pajares, L. Fernández, 2006, American journal of medical genetics. Part A.

CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

B. Ezquieta, J. Molano, 1993, Human Genetics.

[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].

J. Merino, R. Peinado, J. Molano, 2006, Revista espanola de cardiologia.

Detection of delta F508 cystic fibrosis mutation by polymerase chain reaction from old paraffin-embedded tissues: a retrospective autopsy study.

B. Ezquieta, J. Palacios, C. Gamallo, 1994, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families

F. Moreno, B. Peral, J. Molano, 1991, Human Genetics.

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

X. Estivill, G. Antiñolo, A. Gaona, 1992 .

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.

[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER].

S. Borrego, J. Molano, S. Borrego, 2011, Medicina clinica.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.