F Castelló

Oasi Maria SS — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index160citations25works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(6), Mitochondrial Function and Pathology(5), RNA modifications and cancer(4), Biomedical Research and Pathophysiology(3), Glycosylation and Glycoproteins Research(2)

Publications25 total

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Neurological Sciences·2015· 1 cited
The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
Neuromuscular Disorders·2015· 20 cited
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Neurological Sciences·2013· 2 cited
O-6A muscle biopsy study in patients with Autismspectrum disorders and neuromuscular clinicalsigns
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases·2011
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex
Mitochondrion·2010· 3 cited
M.P.1.05 The COII/tRNALys intergenic 9-bp deletion in mtDNA: A new possible cause of sensorineural hearing loss?
Neuromuscular Disorders·2007
M.P.1.11 Homoplasmic point mutations in mitochondrial tRNA genes in patients with encephalomyopathy
Neuromuscular Disorders·2007
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene
Neuromuscular Disorders·2007· 14 cited
Statins and osteoporosis: myth or reality?
PubMed·2004· 10 cited
La familiarita’ per l’osteoporosi come fattore predittivo per il metabolismo estrogenico
Nova Science Publishers (Nova Science Publishers, Inc.)·2004
Treatment of hydrops fetalis with hemofiltration
Pediatric Nephrology·2000· 5 cited
Heparin Therapy and Reversal of Protein-Losing Enteropathy in a Case with Congenital Heart Disease
Pediatric Cardiology·2000· 30 cited
Multiple Biotin-Avidin Amplification for Multiple Immunostaining
Applied immunohistochemistry & molecular morphology·1999
[Treatment of generalized peroxisomal disorders with docosahexaenoic acid ethyl ether].
PubMed·1999· 7 cited
Multiple Biotin-Avidin Amplification for Multiple Immunostaining
Applied Immunohistochemistry·1999· 5 cited
Monitoring of Brain Spiking Activity and Autoantibodies to N‐Terminus Domain of GluR1 Subunit of AMPA Receptors in Blood Serum of Rats with Cobalt‐Induced Epilepsy
Journal of Neurochemistry·1998· 18 cited
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
Journal of Medical Genetics·1998· 19 citedOpen Access
Metabolic coma with ketoacidosis and hyperglycaemia in 2‐methylacetoacetyl‐CoA thiolase deficiency
Journal of Inherited Metabolic Disease·1995· 11 cited
[Cystine-lysinuric lithiasis].
PubMed·1978
Studies on the Site of Renal Sodium Loss in Two Patients with Cystinosis
Nephron·1977· 4 cited
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Frequent Co-authors

Carmela Scuderi(8), Eugenia Borgione(8), S Musumeci(8), Maurizio Elia(6), L Callı́s(6), Mariangela Lo Giudice(4), Girolamo Aurelio Vitello(4), Anna Vila(4), Francesco Domenico Di Blasi(3), G. C. Barbarino(3), Maria Savio(3), Sandro Santa Paola(2), Carmelo Amato(2), Marco Fichera(2), Salvatore DiMauro(2), G Fortuny(2), Gian‐Luca Ferri(2), Rosa Maria Gaudio(2), Cataldo Tirolo(2), F. Chiolerio(2)