P. Gallano

发表

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

E. Tizzano, P. Fuentes-Prior, C. Serra‐Juhé, 2018, European Journal of Human Genetics.

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

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

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

T. Crawford, C. Bruno, E. Zanoteli, 2021, Brain : a journal of neurology.

Evidence‐Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

S. Nelson, M. Hegde, A. Ferlini, 2019, The Journal of pediatrics.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22).

A. de la Chapelle, J. Lalouel, G. Lenoir, 1983, Nucleic acids research.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

I. Illa, E. Gallardo, V. Straub, 2018, Neuromuscular Disorders.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

A new phenotype of dysferlinopathy with congenital onset

C. Paradas, I. Illa, E. Gallardo, 2009, Neuromuscular Disorders.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

J. Clarimón, D. Gómez-Andrés, R. Rojas-García, 2016, Neuromuscular Disorders.

Relevance of CYP3A4*20, UGT1A1*37 and UGT1A1*28 variants in irinotecan‐induced severe toxicity

A. Barnadas, D. Páez, P. Gallano, 2018, British journal of clinical pharmacology.

Relevance of CYP 3 A 4 * 20 , UGT 1 A 1 * 37 and UGT 1 A 1 * 28 variants in irinotecan-induced severe toxicity Running title : genetic biomarkers of irinotecan toxicity

A. Barnadas, D. Páez, P. Gallano, 2018 .

The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1)

K. Grzeschik, C. Junien, D. Weil, 1986, Human Genetics.

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

C. Paradas, R. Rojas-García, I. Illa, 2007, Neurology.

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

C. Paradas, R. Rojas-García, I. Illa, 2007, Neuromuscular Disorders.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

M. Baiget, E. Rivas, C. Paradas, 2012, Orphanet Journal of Rare Diseases.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

E. Aller, L. Martínez-Dolz, I. Azorín, 2022, Annals of neurology.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

C. Ortez, Miroslav P. Milev, M. Sacher, 2019, Scientific Reports.

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.

X. Estivill, R. Williamson, T. Casals, 1989, American journal of human genetics.

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

M. Baiget, C. Paradas, J. Juan-Mateu, 2012, Clinical genetics.

A novel insertional mutation of a single base in exon 12 of the dystrophin gene

M. Baiget, A. Lasa, J. Colomer, 1995, Clinical genetics.

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

C. Ortez, M. Madruga-Garrido, I. Jericó, 2020, Genes.

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

M. Baiget, A. Lasa, R. Rojas-García, 2001, Annals of neurology.

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.

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

X. Estivill, P. Gasparini, B. Dallapiccola, 1989, Human Genetics.

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2022, Clinical genetics.

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific

C. Junien, D. Weil, P. Gallano, 2004, Human Genetics.

A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

A. Boué, P. Gallano, 1984, Prenatal diagnosis.

Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres

A. Boué, P. Gallano, A. Daniel, 1986, Prenatal diagnosis.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

M. Baiget, F. Calafell, A. Lasa, 2005, Archives of neurology.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, S. César, 2020, Pediatric neurology.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

M. Baiget, C. Ortez, J. Juan-Mateu, 2015, PloS one.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Genome and Chromosome Mutations Balance Between Appearance and Elimination

J. Feingold, J. Boué, A. Boué, 1983 .

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

A. Carrió, J. Dopazo, B. Rodríguez-Santiago, 2019, Journal of Medical Genetics.

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

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

Segregation analysis of balanced pericentric inversions in pedigree data

N. Morton, J. Lindsten, M. Petersen, 1986, Clinical genetics.

[Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies].

J. Juan-Mateu, M. Trujillo-Tiebas, P. Gallano, 2012, Medicina clinica.

Cylindrical spirals in two families: Clinical and genetic investigations

G. Ravenscroft, N. Laing, I. Ojanguren, 2019, Neuromuscular Disorders.

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

J. Zidar, C. Angelini, B. Peterlin, 2011, European journal of neurology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

D. Cuadras, C. Ortez, J. Colomer, 2020, Neuromuscular Disorders.

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

I. Ferrer, M. Baiget, M. Olivé, 2004, Neuromuscular Disorders.

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

C. Ortez, E. Rivas, A. Hernández-Laín, 2022, Journal of Medical Genetics.

Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus

X. Estivill, J. Kere, R. Williamson, 1989, Human Genetics.

LMNA mutation in progeroid syndrome in association with strokes.

M. Baiget, J. Juan-Mateu, M. Pineda, 2011, European Journal of Medical Genetics.

The structural gene for aldolase B (ALDB) maps to 9q13→32

C. Junien, D. Weil, M. Mattei, 1985, Annals of human genetics.

Three novel point mutations in the dystrophin gene in DMD patients

M. Baiget, A. Lasa, P. Gallano, 1997 .

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

P. Gallano, C. Navarro, L. Gonzalez-Quereda, 2009, Journal of the Neurological Sciences.

[Molecular diagnosis of Duchenne and Becker muscular dystrophies. Current data].

C. Junien, J. Boué, A. Boué, 1987, Annales de genetique.

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

M. Baiget, A. Lasa, B. Fontaine, 1999, Journal of Neurology.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

J. Kaplan, M. Baiget, A. Lasa, 1998, European Journal of Human Genetics.

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

D. Cuadras, C. Ortez, A. Arzimanoglou, 2020, Epilepsia.

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene

M. Baiget, E. Tizzano, J. Colomer, 1994, European Journal of Pediatrics.

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

E. Tizzano, P. Fuentes-Prior, C. Serra‐Juhé, 2018, European Journal of Human Genetics.

Dysferlinopathy masquerading as a refractory polymyositis

E. Gallardo, P. Gallano, J. M. Grau-Junyent, 2015 .

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

M. Baiget, J. Juan-Mateu, J. Colomer, 2013, Neuromuscular Disorders.

Isolated cognitive abnormalities associated to DMD mutations

A. Cnaan, M. Baiget, C. Spurney, 2013 .

UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms

J. Beckmann, K. Bushby, I. Richard, 1999 .

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

E. Gallardo, J. Díaz-Manera, M. Olivé, 2023, Neuromuscular Disorders.

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

A. Lasa, M. Venegas, C. Orús, 2022, Frontiers in Genetics.

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

I. Jericó, S. Bernal, P. Gallano, 2020, Annals of clinical and translational neurology.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

HIGH PREVALENCE OF THE β‐THALASSAEMIA NONSENSE 37 MUTATION IN CATALONIANS FROM THE EBRO DELTA

M. Baiget, E. Girodon, L. Font, 1992, British journal of haematology.

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

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

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, J. Colomer, 2020, Pediatric neurology.

[Dystrophinopathies].

M. Baiget, A. Lasa, P. Gallano, 1995, Neurologia.

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

M. Castro‐Gago, A. Lasa, P. Gallano, 2002, Revista de neurologia.

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

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