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Research Output 2005 2018

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Article
2018
Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Muscular Diseases
Muscles
Mutation
Mosaicism
Missense Mutation

Copy number variants account for a tiny fraction of undiagnosed myopathic patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Nov 1 2018, In : Genes. 9, 11, 524.

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

Copy number variants account for a tiny fraction of undiagnosed myopathic patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D'Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., Bleecker, J. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Garibaldi, M., Fattori, F., Bortolotti, C. A., Brochier, G., Labasse, C., Verardo, M., Servian-Morilla, E., Gibellini, L., Pinti, M., Di Rocco, G., Raffa, S., Pennisi, E. M., Bertini, E. S., Paradas, C., Romero, N. B. & Antonini, G., Sep 13 2018, In : Acta neuropathologica communications. 6, 1, p. 94

Research output: Contribution to journalArticle

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Kinesin
Microtubules
Spindle Apparatus
Tubulin
Cell Division

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 1

Research output: Contribution to journalArticle

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Glaucoma
Cataract
Distal Myopathies
Slow-Twitch Muscle Fibers
Biopsy
2017

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

Estudio clínico y molecular en una familia con displasia cleidocraneal

Translated title of the contribution: Clinical and molecular study in a family with cleidocranial dysplasiaCallea, M., Fattori, F., Bertini, E. S., Yavuz, I., Bellacchio, E., Avendaño, A., Araque, D., Lacruz-Rengel, M. A., Da Silva, G. & Cammarata-Scalisi, F., Jan 1 2017, In : Archivos Argentinos de Pediatria. 115, 6, p. e440-e444

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Clavicle
Tooth Abnormalities
Developmental Bone Disease
Inheritance Patterns

Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy

Wang, H., Castiglioni, C., Kaçar Bayram, A., Fattori, F., Pekuz, S., Araneda, D., Per, H., Erazo, R., Gümüş, H., Zorludemir, S., Becker, K., Ortega, X., Bevilacqua, J. A., Bertini, E. & Cirak, S., Sep 1 2017, In : Neuromuscular Disorders. 27, 9, p. 836-842 7 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Muscles
Myotonia Congenita
Phenotype

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., Sep 9 2017, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

Sarcoglycanopathies
Cohort Studies
Muscles
Sarcoglycans
Thigh
Mosaicism
Collagen
Mutation
Muscular Diseases
Phenotype
2016

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Callea, M., Bellacchio, E., Fattori, F., Bertini, E., Callea, F. & Cammarata-Scalisi, F., 2016, In : Leukemia and Lymphoma. 57, 9, p. 2189-2191 3 p.

Research output: Contribution to journalArticle

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N. B., Genazzani, A., Bertini, E. & Antonini, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Muscles
Blood Platelet Disorders
Skeletal Muscle Fibers

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa

Demaria, F., De Crescenzo, F., Caramadre, A. M., D'Amico, A., Diamanti, A., Fattori, F., Casini, M. P. & Vicari, S., Dec 1 2016, In : Journal of Adolescent Health. 59, 6, p. 729-731 3 p.

Research output: Contribution to journalArticle

Mitochondrial Encephalomyopathies
Anorexia Nervosa
Chronic Progressive External Ophthalmoplegia
Thymidine Phosphorylase
Leukoencephalopathies

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S., Cassandrini, D., Mercuri, E., Tasca, G., Bertini, E., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D’Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., 2016, In : Journal of Molecular Neuroscience. 59, 3, p. 351-359 9 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Mutation
Genes
RNA Sequence Analysis
Genetic Counseling

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S. P., Cassandrini, D. A., Mercuri, E., Tasca, G., Bertini, E. S., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M. G., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D'Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Mutation
Genes
RNA Sequence Analysis
Genetic Counseling

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S., Cassandrini, D., Mercuri, E., Tasca, G., Bertini, E., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D’Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Mutation
Genes
RNA Sequence Analysis
Genetic Counseling

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

Piga, D., Magri, F., Ronchi, D., Corti, S. P., Cassandrini, D. A., Mercuri, E., Tasca, G., Bertini, E. S., Fattori, F., Toscano, A., Messina, S., Moroni, I., Mora, M., Moggio, M. G., Colombo, I., Giugliano, T., Pane, M., Fiorillo, C., D'Amico, A., Bruno, C. & 3 others, Nigro, V., Bresolin, N. & Comi, G. P., Apr 22 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1-9 9 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Mutation
Genes
RNA Sequence Analysis
Genetic Counseling

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Savarese, M., Musumeci, O., Giugliano, T., Rubegni, A., Fiorillo, C., Fattori, F., Torella, A., Battini, R., Rodolico, C., Pugliese, A., Piluso, G., Maggi, L., D'Amico, A., Bruno, C., Bertini, E. S., Santorelli, F. M., Mora, M., Toscano, A., Minetti, C. & Nigro, V., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 292-299 8 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Infant, Newborn, Diseases
X Chromosome Inactivation
Muscle Hypotonia
Premature Mortality

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Savarese, M., Musumeci, O., Giugliano, T., Rubegni, A., Fiorillo, C., Fattori, F., Torella, A., Battini, R., Rodolico, C., Pugliese, A., Piluso, G., Maggi, L., D'Amico, A., Bruno, C., Bertini, E. S., Santorelli, F. M., Mora, M., Toscano, A., Minetti, C. & Nigro, V., Apr 1 2016, In : Neuromuscular Disorders. 26, 4-5, p. 292-299 8 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Infant, Newborn, Diseases
X Chromosome Inactivation
Muscle Hypotonia
Premature Mortality

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K. L., Fang, M., Rinné, S., Froese, A., Nikolaev, V. O., Grunert, C., Müller, T., Tasca, G., Sarathchandra, P., Drago, F., Dallapiccola, B., Rapezzi, C., Arbustini, E. & 14 others, Romana Di Raimo, F., Neri, M., Selvatici, R., Gualandi, F., Fattori, F., Pietrangelo, A., Li, W., Jiang, H., Xu, X., Bertini, E. S., Decher, N., Wang, J., Brand, T. & Ferlini, A., Jan 4 2016, In : Journal of Clinical Investigation. 126, 1, p. 239-253 15 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Protein Transport
Limb-Girdle Muscular Dystrophies
Cardiac Arrhythmias
Skeletal Muscle

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K. L., Fang, M., Rinné, S., Froese, A., Nikolaev, V. O., Grunert, C., Müller, T., Tasca, G., Sarathchandra, P., Drago, F., Dallapiccola, B., Rapezzi, C., Arbustini, E. & 14 others, Romana Di Raimo, F., Neri, M., Selvatici, R., Gualandi, F., Fattori, F., Pietrangelo, A., Li, W., Jiang, H., Xu, X., Bertini, E., Decher, N., Wang, J., Brand, T. & Ferlini, A., Jan 4 2016, In : Journal of Clinical Investigation. 126, 1, p. 239-253 15 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Protein Transport
Limb-Girdle Muscular Dystrophies
Cardiac Arrhythmias
Skeletal Muscle

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

Tasca, G., Fattori, F., Monforte, M., Hedberg-Oldfors, C., Sabatelli, M., Udd, B., Boldrini, R., Bertini, E., Ricci, E. & Oldfors, A., Aug 20 2016, (Accepted/In press) In : Journal of Neurology. p. 1-3 3 p.

Research output: Contribution to journalArticle

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

Tasca, G., Fattori, F., Monforte, M., Hedberg-Oldfors, C., Sabatelli, M., Udd, B., Boldrini, R., Bertini, E., Ricci, E. & Oldfors, A., Aug 20 2016, In : Journal of Neurology. p. 1-3 3 p.

Research output: Contribution to journalArticle

2015

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Callea, M., Bellacchio, E., Fattori, F., Bertini, E., Callea, F. & Cammarata-Scalisi, F., Dec 23 2015, (Accepted/In press) In : Leukemia and Lymphoma. p. 1-3 3 p.

Research output: Contribution to journalArticle

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fattori, F., Maggi, L., Bruno, C., Cassandrini, D., Codemo, V., Catteruccia, M., Tasca, G., Berardinelli, A., Magri, F., Pane, M., Rubegni, A., Santoro, L., Ruggiero, L., Fiorini, P., Pini, A., Mongini, T., Messina, S., Brisca, G., Colombo, I., Astrea, G. & 17 others, Fiorillo, C., Bragato, C., Moroni, I., Pegoraro, E., D’Apice, M. R., Alfei, E., Mora, M., Morandi, L., Donati, A., Evilä, A., Vihola, A., Udd, B., Bernansconi, P., Mercuri, E., Santorelli, F. M., Bertini, E. & D’Amico, A., May 10 2015, In : Journal of Neurology. 262, 7, p. 1728-1740 13 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Genes
Genetic Testing
Muscular Diseases

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Tasca, G., D'Amico, A., Monforte, M., Nadaj-Pakleza, A., Vialle, M., Fattori, F., Vissing, J., Ricci, E. & Bertini, E., Nov 1 2015, In : Neuromuscular Disorders. 25, 11, p. 898-903 6 p., 3087.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Muscles
Mutation
Lower Extremity
Rotator Cuff
2014

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A. & Bertini, E., 2014, In : Journal of Neurology. 261, 5, p. 870-876 7 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Muscle Weakness
Slow-Twitch Muscle Fibers
Exome

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Böhm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Pénisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R., Deschauer, M., Romero, N. B., Eymard, B. & Laporte, J., 2014, In : Journal of Medical Genetics. 51, 12, p. 824-833 10 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Muscle Weakness
Calcium
Myalgia

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy

Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., D'Amico, A., Alvarez, K., Gejman, R., Diaz, J., Santorelli, F. M., Romero, N. B., Bertini, E. & Bevilacqua, J. A., Dec 1 2014, In : Muscle and Nerve. 50, 6, p. 1011-1016 6 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Myotonia Congenita
Magnetic Resonance Imaging
Muscles
Biopsy
2013
Ophthalmoplegia
Muscular Diseases
Missense Mutation
Myosins
Myotonia Congenita

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., 2013, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Dynamin II
Congenital Structural Myopathies
Muscles
Mutation
Inborn Genetic Diseases

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., Mar 2013, In : Neuromuscular Disorders. 23, 3, p. 229-238 10 p.

Research output: Contribution to journalArticle

Dynamin II
Congenital Structural Myopathies
Muscles
Mutation
Inborn Genetic Diseases

Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

Romano, A., Tessa, A., Barca, A., Fattori, F., Fulvia de Leva, M., Terracciano, A., Storelli, C., Santorelli, F. M. & Verri, T., Mar 2013, In : Human Mutation. 34, 3, p. 525-537 13 p.

Research output: Contribution to journalArticle

Mutation
Vertebrates
Proteins
Phenotype
Amino Acids

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: Definition of the clinical spectrum and molecular findings in five patients

Cassandrini, D., Cilio, M. R., Bianchi, M., Doimo, M., Balestri, M., Tessa, A., Rizza, T., Sartori, G., Meschini, M. C., Nesti, C., Tozzi, G., Petruzzella, V., Piemonte, F., Bisceglia, L., Bruno, C., Dionisi-Vici, C., D'Amico, A., Fattori, F., Carrozzo, R., Salviati, L. & 2 others, Santorelli, F. M. & Bertini, E., Jan 2013, In : Journal of Inherited Metabolic Disease. 36, 1, p. 43-53 11 p.

Research output: Contribution to journalArticle

Mutation
Neuroimaging
Brain Diseases
Transfer RNA Aminoacylation
Amino Acyl-tRNA Synthetases

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Tasca, G., Fattori, F., Ricci, E., Monforte, M., Rizzo, V., Mercuri, E., Bertini, E. & Silvestri, G., Jan 2013, In : Acta Neuropathologica. 125, 1, p. 169-171 3 p.

Research output: Contribution to journalArticle

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D'Arrigo, S., Tessa, A., Ciano, C., Santorelli, F. M., Savoiardo, M. & Mariotti, C., Jan 2013, In : European Journal of Neurology. 20, 1, p. 138-146 9 p.

Research output: Contribution to journalArticle

Pyramidal Tracts
Magnetic Resonance Imaging
Mutation
Diffusion Tensor Imaging
Genes
2012
Cleidocranial Dysplasia
Supernumerary Tooth
Missense Mutation
Interceptive Orthodontics
Tooth
Cleidocranial Dysplasia
Supernumerary Tooth
Missense Mutation
Interceptive Orthodontics
Tooth

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, M., Catteruccia, M., Benedetti, S., Moroni, I., Uziel, G., Pantaleoni, C., Chiapparini, L., Bizzi, A., D'Amico, A., Fattori, F., Salsano, M. L., Pastore, A., Tozzi, G., Piemonte, F. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1075-1082 8 p.

Research output: Contribution to journalArticle

Progressive Bulbar Palsy
Molecular Biology
Riboflavin
Deafness
Auditory Evoked Potentials
2011
RNA, Transfer, Asn
Mitochondrial Myopathies
Gene transfer
Muscle
Muscles

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

H'mida-Ben Brahim, D., M'Zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N'Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R. & 3 others, Santorelli, F. M., Tazir, M. & Koenig, M., Jan 2011, In : Journal of Neurology. 258, 1, p. 56-67 12 p.

Research output: Contribution to journalArticle

Ataxia
Single Nucleotide Polymorphism
Genes
Cerebellar Ataxia
Mutation

Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1

Ferreira, M., Torraco, A., Rizza, T., Fattori, F., Meschini, M. C., Castana, C., Go, N. E., Nargang, F. E., Duarte, M., Piemonte, F., Dionisi-Vici, C., Videira, A., Vilarinho, L., Santorelli, F. M., Carrozzo, R. & Bertini, E., Feb 2011, In : Neurogenetics. 12, 1, p. 9-17 9 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Electron Transport
Fibroblasts
Neurospora crassa
Mutation