A. Cabello

发表

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

J. Arenas, Miguel Ángel Martín, Y. Campos, 1996, Muscle & nerve.

Renal pathology in children with mitochondrial diseases

J. Arenas, Miguel Ángel Martín, M. García-Silva, 2005, Pediatric Nephrology.

Retinoblastoma (Rb) tumor‐suppressor pathway alterations in meningeal hemangiopericytomas: High E2F transcription factor 1 expression and loss of Rb expression

R. Samaniego, J. Martínez, J. Sepúlveda, 2008, Cancer.

Lysis rates with rt-PA vary between different human emboli in a rat model of cerebral embolism

L. Calandre, A. Cabello, M. Grau, 1998 .

Multiple intracranial arterial occlusions (moyamoya disease) in patients with neurofibromatosis one case report with autopsy

R. Lobato, E. Lamas, A. Cabello, 2005, Acta Neurochirurgica.

Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family.

O. Combarros, J. Berciano, F. Coria, 1986, Brain : a journal of neurology.

Hyperkalaemic paralysis, neuropathy and persistent motor neuron discharges at rest in Addison's disease.

J. Vílchez, A. Cabello, J. Benedito, 1980, Journal of neurology, neurosurgery, and psychiatry.

Normal angiogram after myocardial infarction in young patients: a prospective clinical-angiographic and long-term follow-up study.

R. Romero, A. Cabello, A. Sánchez-González, 1997, International journal of cardiology.

A new phenotype of dysferlinopathy with congenital onset

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

Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

Iñaki Inza, Rubén Armañanzas, Ana Cabello, 2008, PloS one.

CAPN3 mutations in patients with idiopathic eosinophilic myositis

N. Romero, N. Lévy, F. Leturcq, 2006 .

[Bilateral thalamic gliomas: report of a case with cognitive impairment].

A. Lagares, R. Lobato, J. Rivas, 2004, Revista de neurologia.

Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA

J. Arenas, D. Chinchón, Y. Campos, 1995, Acta neurologica Scandinavica.

Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy

J. Arenas, M. Villanueva, Y. Campos, 1993, Muscle & nerve.

Worsening myopathy associated with ezetimibe in a patient with McArdle disease.

A. Cabello, J. Pérez-Calvo, F. Civeira-Murillo, 2005, QJM : monthly journal of the Association of Physicians.

Macrophagic myofasciitis in childhood: a controversial entity.

J. García-Peñas, E. Rivas, A. Ferreiro, 2005, Pediatric neurology.

Survival, mortality and causes of death in inflammatory myopathies

L. Carmona, P. Carreira, M. Galindo, 2006, Autoimmunity.

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

F. Ramos, L. Goldfarb, G. Piñol-Ripoll, 2009, Neuromuscular Disorders.

Myopathy with nemaline structures associated with HIV infection

P. Martínez-Martín, A. Cabello, S. Madero, 1990, Journal of Neurology.

Molecular analysis of Spanish patients with AMP deaminase deficiency

J. Arenas, Miguel Ángel Martín, C. Navarro, 2000, Muscle & nerve.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

A. Ribes, P. Briones, W. Sperl, 2009, Journal of Inherited Metabolic Disease.

Short Illustrated Review Haemangiopericytoma presenting with acute intracerebral haemorrhage

A. Lagares, R. Lobato, I. Arrese, 2007 .

Haemangiopericytoma presenting with acute intracerebral haemorrhage

A. Lagares, R. Lobato, I. Arrese, 2007, Acta Neurochirurgica.

Progressive multifocal leukoencephalopathy in HIV infection presenting as Balint's syndrome

E. García-Albea, A. Cabello, S. Madero, 1994, Neurology.

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family

J. Molina, B. Bornstein, J. Arenas, 2001, Neurology.

Herpes simplex brainstem encephalitis with a relapsing course

M. Catalán, J. Duarte, L. Clavería, 1994, Journal of Neurology.

Intestinal pseudo‐obstruction and urinary retention: cardinal features of a mitochondrial DNA‐related disease

J. Arenas, J. Guerra-Vales, A. García-Velasco, 2003, Journal of internal medicine.

Abnormal carnitine distribution in the muscles of patients with idiopathic inflammatory myopathy.

J. Gómez-Reino, J. Arenas, M. R. Gonzalez-Crespo, 1996, Arthritis and rheumatism.

Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.

J. Gómez-Reino, J. Arenas, Y. Campos, 1995, Annals of the rheumatic diseases.

Dominantly inherited motor and sensory neuropathy type I Genetic, clinical, electrophysiological and pathological features in four families

O. Combarros, J. Berciano, J. Figols, 1983, Journal of the Neurological Sciences.

Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases

A. Toutain, N. Romero, B. Estournet, 2000, Annals of neurology.

Neuropathological studies on the toxic syndrome related to adulterated rapeseed oil in Spain.

I. Téllez, A. Cabello, J. Ricoy, 1983, Brain : a journal of neurology.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Z. Molnár, N. Laing, I. Nishino, 2006, Neuromuscular Disorders.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

R. Fletterick, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

Chromatolytic changes in the central nervous system of patients with the toxic oil syndrome

O. Franch, I. Téllez, A. Cabello, 2004, Acta Neuropathologica.

Letters to the editor: Letters to the Editor

N. Chu, Chin‐Chang Huang, J. Slopis, 1991 .

Pathology of a new Toxic Syndrome caused by ingestion of adulterated oil in Spain

F. J. Martinez-Tello, J. J. Navas-Palacios, J. R. Ricoy, 2004, Virchows Archiv A.

Complete surgical resection of high-grade astroblastoma with long time survival: case report and review of the literature.

R. Lobato, P. Gómez, A. Cabello, 2006, Neurocirugia.

Continuous muscle fiber activity, peripheral neuropathy, and thymoma

J. Mora, H. Liaño, A. Cabello, 1991, Annals of neurology.

Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases.

O. Franch, J. Feliu, A. Cabello, 1981, Acta neuropathologica. Supplementum.

HDM2 overexpression and focal loss of p14/ARF expression may deregulate the p53 tumour suppressor pathway in meningeal haemangiopericytomas. Study by double immunofluorescence and laser scanning confocal microscopy

J. Martínez, J. Sepúlveda, A. Cabello, 2005, Histopathology.

Intracranial seeding from an intramedullary malignant astrocytoma.

R. Lobato, A. Cabello, J. Millán, 1986, Surgical neurology.

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients

Alejandro Lucia, Ana Cabello, Alberto Blazquez, 2007, Human mutation.

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, Y. Campos, 2000, Neuromuscular Disorders.

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, J. Vílchez, 2000, Human mutation.

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, Y. Campos, 2000, Neuromuscular Disorders.

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, A. Cabello, 2000, Muscle & nerve.

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient

J. Arenas, Miguel Ángel Martín, Y. Campos, 1999, Neuromuscular Disorders.

Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients

J. Arenas, A. Muñoz, F. Mateos, 1999, Neuroradiology.

[Dysphonia as a first symptom in several neuromuscular diseases. Laryngeal electroneuromyography diagnostic utility].

G. San Martin, A. Cabello, L. Martin, 2009, Neurologia.

Hypotrophy of type I fibres with central nuclei: recovery 4 years after diagnosis.

A. Cabello, J. Ricoy, 1985, Journal of neurology, neurosurgery, and psychiatry.

Clinical and histologic changes in the follow-up of a congenital myopathy.

A. Villarejo, F. Mateos, A. Cabello, 2005, Pediatric neurology.

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

E. Rivas, M. Sobrido, C. Navarro, 2005, Brain : a journal of neurology.

DYSMATURATIVE MYOPATHY: 110

A. Cabello, I. Tellez-Nagel, J-R. Riooy, 1979 .

Dysmaturative myopathy. Evolution of the morphological picture in three cases.

A. Cabello, J. Ricoy, 1981, Acta neuropathologica. Supplementum.

[Sneddon's syndrome: its clinical characteristics and etiopathogenic factors].

F. Bermejo, A. Sempere, A. Cabello, 1992, Revista clinica espanola.

I-Cell disease (Mucolipidosis II)

J. Martín, R. Desnick, J. Leroy, 1975, Acta Neuropathologica.

Oligodendrogliomas arising in the scar of a brain contusion. Report of two surgically verified cases.

R. Lobato, J. Rivas, A. Cabrera, 1985, Surgical neurology.

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

J. Carretero, J. Arenas, Miguel Ángel Martín, 2007, Neuromuscular Disorders.

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.

A. Ribes, J. Arenas, P. Briones, 1994, The Journal of pediatrics.

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency

J. Arenas, Miguel Ángel Martín, F. Bustos, 2000, Human mutation.

Molecular analysis in spanish patients with muscle carnitine palmitoyltransferase deficiency

J. Arenas, Miguel Ángel Martín, P. del Hoyo, 1999, Muscle & nerve.

Suprasellar chordoid glioma

Miguel Ángel Martínez, R. Lobato, M. A. Martínez, 2000, Acta Neuropathologica.

Myopathy with multiple minicore Report of two siblings

A. Cabello, J. Ricoy, G. Goizueta, 1980, Journal of the Neurological Sciences.

Astroblastoma: electron microscopy and immunohistochemical findings: case report.

A. Cabello, A. Castresana, S. Madero, 1991, Surgical neurology.

Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family

C. Tabernero, J. Berciano, J. Polo, 2000, Journal of neurology, neurosurgery, and psychiatry.

Subependymoma of the lateral ventricle.

R. Lobato, M. J. Muñoz, M. de la Fuente, 1981, Surgical neurology.

Spongiform leucoencephalopathy after inhaling heroin

I. Posada, C. Ramo, A. Sempere, 1991, The Lancet.

Time window for clinical effectiveness of mass evacuation in a rat balloon model mimicking an intraparenchymatous hematoma

L. Calandre, A. Cabello, M. Grau, 2000, Journal of the Neurological Sciences.

Subcortical arteriosclerotic encephalopathy (Binswanger's disease): a report of five patients

O. Franch, A. Cabello, E. García‐Albea, 1987, Acta neurologica Scandinavica.

Primary melanoma of the cauda equina: Case report and review of the literature.

A. Lagares, P. M. Munarriz, I. Paredes, 2012, Neurocirugia.

Classification of oligodendroglial tumors based on histopathology criteria is a significant predictor of survival--clinical, radiological and pathologic long-term follow-up analysis.

A. Hernández-Laín, A. Ramos, A. Cabello, 2009, Clinical neuropathology.

Treatment of invasive growth hormone pituitary adenomas with long-acting somatostatin analog SMS 201-995 before transsphenoidal surgery.

A. Cabello, B. Barceló, J. Estrada, 1994, Journal of neurosurgery.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense‐mediated mRNA decay

A. Lucia, I. Férnandez-Cadenas, G. Nogales-Gadea, 2008, Human mutation.

Histochemical study of the vastus lateralis muscle fibre types of athletes.

J. Arenas, A. Cabello, J. Ricoy, 1998, Journal of physiology and biochemistry.

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

M. Castro‐Gago, J. García-Peñas, J. Arenas, 1998, Neuromuscular Disorders.

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

J. Arenas, Y. Campos, A. Cabello, 2007, Neuromuscular Disorders.

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

J. Arenas, Y. Campos, A. Cabello, 1995, Pediatric neurology.

[Hypothyroid myopathy. Clinico-pathologic study of 20 cases].

A. del Palacio, A. Cabello, J. Ricoy, 1990, Anales de medicina interna.

Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

A. M. Salio, A. Cabello, A. Berbel-Garcia, 2004, Clinical neuropharmacology.

Complex I Defect in muscle from patients with Huntington's disease

J. Arenas, Miguel Ángel Martín, A. Cabello, 1998, Annals of neurology.

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE

J. Arenas, A. Andreu, R. Garesse, 2005, Neuromuscular Disorders.

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

J. Arenas, A. Andreu, Y. Campos, 2004, Neurology.

Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene

B. Bornstein, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

J. Arenas, Y. Campos, A. Cabello, 1997, Biochemical and biophysical research communications.

[Whipple's disease confined to the brain. A clinical case with pathological confirmation at necropsy].

F. Bermejo-Pareja, I. Posada, E. López‐Valdés, 2004, Revista de neurologia.

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

A. Santalla, Margarita Pérez, A. Lucia, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

A. Lucia, G. Nogales-Gadea, J. Arenas, 2008, Journal of Medical Genetics.

Novel mutation in the PYGM gene resulting in McArdle disease.

A. Lucia, I. Férnandez-Cadenas, J. Arenas, 2006, Archives of neurology.

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain

J. Arenas, Miguel Ángel Martín, Y. Campos, 1998, Journal of the Neurological Sciences.

[Thyroid myopathy. Effect of treatment with thyroid hormones].

A. del Palacio, A. Cabello, J. Ricoy, 1990, Anales de medicina interna.

[Congenital myopathies].

A. Cabello, J. R. Ricoy-Campo, 2003, Revista de neurología (Ed. impresa).

Neuromuscular changes in hypertrophic cardiomyopathy.

O. Franch, A. Cabello, J. Iglesias, 1981, Acta neuropathologica. Supplementum.

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker‐Warburg syndrome in two Spanish Gypsy families

J. Cruces, F. Mateos, A. Cabello, 2009, Clinical genetics.

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes

J. Arenas, A. Astudillo, Y. Campos, 2003, Neuromuscular Disorders.

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.

V. P. Misra, R. King, J. Muddle, 1994, Brain : a journal of neurology.

Diabetes and Mitochondrial Encephalomyopathy

A. Cabello, Elena García, J. Macarrón, 2010 .

Muscle dysfunction in elderly individuals with hip fracture.

J. Gómez-Reino, J. Arenas, M. R. Gonzalez-Crespo, 1999, The Journal of rheumatology.

Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA

J. Arenas, Y. Campos, A. Cabello, 1996, Journal of Inherited Metabolic Disease.

Acute painful diabetic neuropathy following severe weight loss

A. Cabello, J. Mascías, F. Castellanos, 1996, Muscle & nerve.

Infection caused by Ochrobactrum anthropi.

F. Soriano, J. Ramos, A. Cabello, 1996, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

[Eosinophilic myositis in a 9 year old boy].

J. L. Peña Segura, A. Cabello, J. López Pisón, 2001, Revista de neurologia.

[Neonatal hypotonia of muscular origin: analysis of 50 cases].

M. Floriach-Robert, A. Cabello, R. Simón de las Heras, 2001, Neurologia.

[Melanotic medulloblastoma. Ultrastructural and histochemical study of a case].

I. Ezpeleta, R. Guarch, F. García‐Bragado, 1990, Archivos de neurobiologia.

Linfomatosis cerebral como causa de leucoencefalopatía

E. López‐Valdés, A. Lagares, A. Hernández-Laín, 2008 .

[Lymphomatosis cerebri as the cause of leukoencephalopathy].

E. López‐Valdés, A. Lagares, A. Hernández-Laín, 2008, Revista de neurologia.

[Diagnosis of Alzheimer's disease. Evaluation of senile plaques of the diffuse type].

E. Mufson, A. Cabello, S. Madero, 1992, Medicina clinica.

BALINT'S SYNDROME. AUTHORS' REPLY

F. Jiménez-Jiménez, A. Moulignier, B. Dupont, 1995 .

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

G. Nogales-Gadea, A. Cabello, J. Rubio, 2008, Journal of Medical Genetics.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

R. Fletterick, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.

J. Arenas, M. García-Silva, Y. Campos, 2012, Mitochondrion.

Multiple sclerosis and hypertrophic demyelinating neuropathy.

I. Pereiró, M. Arias, I. Requena, 1992, Journal of neurology, neurosurgery, and psychiatry.