C. Espinós

发表

Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.

A. Cid, J. Aznar, S. Haya, 2003, Haematologica.

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Tsviya Olender, Doron Lancet, Shmuel Pietrokovski, 2002, European Journal of Human Genetics.

Clinical spectrum of BICD2 mutations

C. Espinós, J. Vázquez-Costa, J. Vílchez, 2020, European journal of neurology.

Genetic analyses of celiac disease in a Spanish population confirm association with CELIAC3 but not with CELIAC4.

C. Ribes-Koninckx, E. Donat, D. Planelles, 2007, Tissue antigens.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Autosomal recessive Charcot-Marie-Tooth neuropathy.

C. Espinós, E. Calpena, D. Martínez-Rubio, 2012, Advances in experimental medicine and biology.

Role of Oxidative Damage in Neurodegeneration with Brain Iron Accumulation Disorders

B. Pérez-Dueñas, C. Espinós, A. Darling, 2016 .

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

R. Sivera, C. Espinós, J. Vílchez, 2017, The journal of international advanced otology.

Charcot-Marie-Tooth disease

J. Millán, R. Sivera, C. Espinós, 2013, Neurology.

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

M. Sobrido, M. Martínez-Vicente, B. Pérez-Dueñas, 2020, Annals of clinical and translational neurology.

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

R. Artuch, À. García‐Cazorla, B. Pérez-Dueñas, 2010, Clinical genetics.

Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain

I. Martínez-Torres, C. Espinós, M. Berenguer, 2019, Clinical genetics.

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants

F. Martínez, J. Aznar, S. Haya, 1998, American journal of hematology.

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

C. Marco-Marín, C. Espinós, C. Domínguez-González, 2017, neurogenetics.

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

D. Valverde, C. Espinós, A. Baloira, 2017, Scientific Reports.

Polymorphism of alcohol dehydrogenase genes in alcoholic and nonalcoholic individuals from Valencia (Spain).

C. Espinós, C. Nájera, C. Ramírez, 2004, Hereditas.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

T. Jaijo, C. Espinós, J. Vílchez, 2008, Brain : a journal of neurology.

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

R. Rojas-García, R. Sivera, J. Díaz-Manera, 2020, European journal of neurology.

Hereditary motor neuropathies and overlapping conditions

C. Espinós, V. Lupo, Paula Sancho, 2021 .

TO JMG Genetics of Charcot-Marie-Tooth disease type 4 A : mutations , inheritance , phenotypic variability , and founder effect

J. Lupski, J. Millán, L. Pedrola, 2005 .

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

Complexity of the Hereditary Motor and Sensory Neuropathies

S. Pascual-Pascual, C. Espinós, E. Calpena, 2015, Journal of child neurology.

Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex

J. Svaren, S. Pascual-Pascual, C. Espinós, 2020, European journal of neurology.

The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease

J. Dopazo, R. Sivera, C. Espinós, 2015, European journal of neurology.

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

C. Espinós, J. Vázquez-Costa, T. Sevilla, 2021, Annals of clinical and translational neurology.

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

J. Dopazo, F. García-García, S. Pascual-Pascual, 2016, The Journal of molecular diagnostics : JMD.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

J. Dopazo, S. Pascual-Pascual, R. Sivera, 2016, Brain : a journal of neurology.

Mutations in the MORC 2 gene cause axonal Charcot – Marie – Tooth disease

J. Dopazo, S. Pascual-Pascual, R. Sivera, 2015 .

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

T. Huisman, A. Poretti, C. Ortez, 2019, Parkinsonism & related disorders.

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene

F. Martínez, J. Aznar, S. Haya, 2000 .

Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

J. Beckmann, J. Senderek, R. Chrast, 2013, Glia.

Vestibular impairment in Charcot-Marie-Tooth disease type 4C

R. Sivera, C. Espinós, J. Vílchez, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

C. Paradas, R. Sivera, J. Díaz-Manera, 2021, European journal of neurology.

Early childhood-onset axonal polyneuropathy , a new clinical AIFM 1 form

Domínguez, C. Espinós, Cristina, 2018 .

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies.

V. Felipo, C. Espinós, F. Palau, 2009, Advances in experimental medicine and biology.

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

J. Millán, C. Ayuso, C. Espinós, 1998, Molecular and cellular probes.

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

S. Erceg, C. Espinós, J. Sánchez-Alcázar, 2021, Stem cell research.

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

S. Pascual-Pascual, S. Erceg, C. Espinós, 2018, Stem cell research.

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

S. Pascual-Pascual, S. Erceg, C. Espinós, 2018, Stem cell research.

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

E. Aller, T. Jaijo, R. Sivera, 2022, Neurology: Genetics.

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

I. Azorín, B. Udd, C. Espinós, 2012, Clinical Genetics.

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

S. Seneca, P. Navas, A. Ribes, 2014, Journal of Inherited Metabolic Disease.

Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.

F. Martínez, J. Aznar, J. I. Lorenzo, 2000, Haematologica.

Significant linkage and non‐linkage of type 1 von Willebrand disease to the von Willebrand factor gene

F. Martínez, J. Aznar, S. Haya, 2001, British journal of haematology.

Diagnosis of two related carriers of severe haemophilia B with no family history

J. Aznar, J. I. Lorenzo, C. Espinós, 2000, Haemophilia : the official journal of the World Federation of Hemophilia.

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

P. Ferenci, C. Espinós, 2020, JHEP reports : innovation in hepatology.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

C. Pérez-Cerdá, M. Ugarte, M. Palacín, 2013, Molecular genetics and metabolism.

Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

J. Millán, F. Pallardó, M. I. Galindo, 2020, Antioxidants.

Genetics and pathogenesis of inherited ataxias and spastic paraplegias.

C. Espinós, F. Palau, 2009, Advances in experimental medicine and biology.

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

F. García-García, S. Pascual-Pascual, E. Hedlund, 2019, Human molecular genetics.

Approach to the Differential Diagnosis of Cerebellar Ataxias

C. Espinós, F. Palau, 2019, Handbook of the Cerebellum and Cerebellar Disorders.

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.

Orphanet Journal of Rare Diseases BioMed Central Review

C. Espinós, F. Palau, 2006 .

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

C. Marco-Marín, B. Pérez-Dueñas, M. Soriano-Navarro, 2022, Human molecular genetics.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

C. Marco-Marín, E. Muñoz, A. Duat‐Rodríguez, 2022, International journal of molecular sciences.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

R. Artuch, J. Colomer, C. Espinós, 2012, JIMD Reports.

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

Beatriz Llamusí, R. Artero, M. I. Galindo, 2018, Disease Models & Mechanisms.

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

M. I. Galindo, C. Espinós, E. Calpena, 2015, PloS one.

A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism

C. Espinós, E. Novella-Maestre, D. Martínez‐Rubio, 2021, Neurology: Genetics.

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease

R. Sivera, C. Espinós, F. Palau, 2010, Journal of the peripheral nervous system : JPNS.

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

J. Lupski, J. Millán, F. Palau, 2005, Journal of Medical Genetics.

Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies

C. Espinós, 2011 .

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

M. I. Galindo, C. Espinós, J. Vílchez, 2009, Human molecular genetics.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

C. Marco-Marín, E. Rivas, R. Sivera, 2011, Journal of the peripheral nervous system : JPNS.

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

C. Espinós, N. Manning, E. Calpena, 2015, European Journal of Pediatrics.

Epidemiology of Usher Syndrome in Valencia and Spain

J. Millán, C. Espinós, M. Beneyto, 1999, Public Health Genomics.

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population

D. Ginestar, C. Espinós, F. Palau, 2005, Human mutation.

Linkage analysis in Usher syndrome type I (USH1) families from Spain.

J. Millán, M. Baiget, C. Ayuso, 1998, Journal of medical genetics.

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

C. Espinós, Paula Sancho, Isabel Hinarejos, 2020, Antioxidants.

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity

A. Sánchez-Villegas, Antonio Tugores, C. Espinós, 2020, Journal of Gastroenterology.

Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease

F. Martínez, J. Aznar, S. Haya, 2001, Annals of Hematology.

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

C. Espinós, M. Berenguer, Ana Sánchez-Monteagudo, 2021, Biomedicines.

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

C. Espinós, J. Vázquez-Costa, J. Vílchez, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

M. Marti, B. Pérez-Dueñas, M. I. Vanegas, 2020, Parkinsonism & related disorders.

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism

F. Carrillo, S. Jesús, P. Mir, 2021, Neurology: Genetics.

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene

C. Espinós, J. Vázquez-Costa, T. Sevilla, 2018, Journal of the Neurological Sciences.

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment

K. Double, W. Stremmel, R. Weiskirchen, 2023, Biomedicines.

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

A. Ormazabal, R. Artuch, M. Pineda, 2009, Journal of Medical Genetics.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

E. Rivas, R. Sivera, C. Espinós, 2015, Human molecular genetics.

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

C. Ibáñez, C. Simó, C. Espinós, 2017, PloS one.

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

V. Volpini, A. Ribes, R. Artuch, 2006, Journal of the Neurological Sciences.

Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study

M. Stamelou, P. Martínez-Martín, N. Nardocci, 2017, Movement disorders : official journal of the Movement Disorder Society.

MUTATIONS IN THE SH 3 TC 2 PROTEIN CAUSING CHARCOT-MARIE-TOOTH DISEASE TYPE 4 C AFFECT ITS LOCALIZATION IN THE PLASMA MEMBRANE AND ENDOCYTIC PATHWAY

C. Espinós, J. Vílchez, F. Palau, 2011 .

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

E. Aller, J. Millán, F. González-Candelas, 2010, European Journal of Human Genetics.

A Novel Delins Mutation in the α-TTP Gene in a Family Segregating Ataxia With Isolated Vitamin E Deficiency

C. Espinós, M. Fernández-Burriel, F. Palau, 2008, Pediatric Research.

Title page A novel delins mutation in the -TTP gene in a family segregating ataxia with isolated vitamin E deficiency Running title: A complex mutation in the -TTP gene

C. Espinós, M. Fernández-Burriel, F. Palau, 2011 .

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

C. Espinós, T. Sevilla, M. Frasquet, 2019, Journal of the Neurological Sciences.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

F. Gil-Ortiz, B. Pérez-Dueñas, C. Espinós, 2021, International journal of molecular sciences.

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

E. Knecht, C. Espinós, C. Aguado, 2016, Front. Mol. Biosci..

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

C. Marco-Marín, Miguel Ángel Martín, I. Azorín, 2022, Neuropathology and applied neurobiology.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

J. Millán, C. Espinós, J. M. Millán, 1998, Human Genetics.

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation

B. Pérez-Dueñas, C. Espinós, A. Darling, 2018, Clinical genetics.

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21

D. Montaner, J. García-Peñas, J. Arpa, 2014, Neuromuscular Disorders.

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients

F. Aziz, C. Espinós, N. Aboussair, 2023, Molecular genetics and metabolism reports.

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth

C. Paradas, T. Jaijo, J. Colomer, 2013, Clinical genetics.

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4

C. Espinós, F. Palau, T. Sevilla, 2007, Clinical genetics.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

M. Sobrido, C. Espinós, J. Pardo, 2017, Neuromuscular Disorders.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

E. Aller, J. Millán, J. Rosell, 2012, Molecular vision.

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

D. Valverde, C. Espinós, A. Baloira, 2017, Scientific Reports.

Molecular diagnosis of coenzyme Q10 deficiency

P. Navas, J. Armstrong, R. Artuch, 2015, Expert review of molecular diagnostics.

Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up

P. Navas, R. Artuch, M. Pineda, 2010, Movement disorders : official journal of the Movement Disorder Society.

Severe and moderate hemophilia A: identification of 38 new genetic alterations

A. Cid, J. Aznar, N. Cabrera, 2008, Haematologica.

Identification of three novel mutations in the MYO7A gene

C. Ayuso, C. Espinós, J. M. Millán, 1999, Human mutation.

Sensory Tricks in Pantothenate Kinase‐Associated Neurodegeneration: Video‐Analysis of 43 Patients

M. Marti, C. Espinós, B. P. Dueñas, 2019, Movement disorders clinical practice.

Efficacy of pipobroman in the treatment of polycythemia vera: long-term results in 163 patients.

A. Aventín, J. Sierra, G. Leone, 2000, Haematologica.

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

M. Sobrido, J. García-García, A. Pelayo-Negro, 2018, Journal of Medical Genetics.

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.

F. Martínez, J. Aznar, S. Haya, 2000, British Journal of Haematology.

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

C. Espinós, M. Beneyto, C. Vilela, 1999, Anales otorrinolaringologicos ibero-americanos.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

C. Marco-Marín, C. Espinós, S. Aguilera-Albesa, 2023, International journal of molecular sciences.

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

J. Esteban-Pérez, C. Espinós, C. Domínguez-González, 2023, Journal of neurology.

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

S. Seneca, P. Navas, A. Ribes, 2014, Journal of Inherited Metabolic Disease.

Profile of plasma microRNAs as a potential biomarker of Wilson's disease.

C. Espinós, L. García-Villarreal, Ana Sánchez-Monteagudo, 2024, Journal of gastroenterology.