19992020

Research output per year

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Research Output

Acetazolamide efficacy and tolerability in migraine with aura: A pilot study

De Simone, R., Marano, E., Di Stasio, E., Bonuso, S., Fiorillo, C. & Bonavita, V., Apr 2005, In : Headache. 45, 4, p. 385-386 2 p.

Research output: Contribution to journalArticle

A cluster headache family with possible autosomal recessive inheritance

De Simone, R., Fiorillo, C., Bonuso, S. & Castaldo, G., Aug 26 2003, In : Neurology. 61, 4, p. 578-579 2 p.

Research output: Contribution to journalArticle

Aged endothelial nitric oxide synthase knockout mice exhibit higher mortality concomitant with impaired open-field habituation and alterations in forebrain neurotransmitter levels

Dere, E., De Souza Silva, M. A., Topic, B., Fiorillo, C., Li, J. S., Sadile, A. G., Frisch, C. & Huston, J. P., Nov 2002, In : Genes, Brain and Behavior. 1, 4, p. 204-213 10 p.

Research output: Contribution to journalArticle

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M. A., Siciliano, G., D'Amico, A., Lilliu, F., Bruno, C. & Angelini, C., Sep 2012, In : Clinical Genetics. 82, 3, p. 232-239 8 p.

Research output: Contribution to journalArticle

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V. & Lamperti, C., Jul 2019, In : Mitochondrion. 47, p. 24-29 6 p.

Research output: Contribution to journalArticle

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

D'Amico, A., Fattori, F., Fiorillo, C., Paglietti, M. G., Testa, M. B. C., Verardo, M., Catteruccia, M., Bruno, C. & Bertini, E., Oct 2019, In : Neuromuscular Disorders. 29, 10, p. 766-770 5 p.

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journalLetter

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journalArticle

A rare mutation in MYH7 gene occurs with overlapping phenotype

Ruggiero, L., Fiorillo, C., Gibertini, S., De Stefano, F., Manganelli, F., Iodice, R., Vitale, F., Zanotti, S., Galderisi, M., Mora, M. & Santoro, L., Feb 13 2015, In : Biochemical and Biophysical Research Communications. 457, 3, p. 262-266 5 p.

Research output: Contribution to journalArticle

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Lamperti, C., Fabbri, G., Vercelli, L., D'Amico, R., Frusciante, R., Bonifazi, E., Fiorillo, C., Borsato, C., Cao, M., Servida, M., Greco, F., Di Leo, R., Volpi, L., Manzoli, C., Cudia, P., Pastorello, E., Ricciardi, L., Siciliano, G., Galluzzi, G., Rodolico, C. & 7 others, Santoro, L., Tomelleri, G., Angelini, C., Ricci, E., Palmucci, L., Moggio, M. & Tupler, R., Aug 2010, In : Muscle and Nerve. 42, 2, p. 213-217 5 p.

Research output: Contribution to journalArticle

Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo, C., Moro, F., Brisca, G., Accogli, A., Trucco, F., Trovato, R., Pedemonte, M., Severino, M., Catala, M., Capra, V., Santorelli, F. M., Bruno, C., Rossi, A. & Minetti, C., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e19-e21

Research output: Contribution to journalArticle

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H. & 8 others, Wortmann, S., Levanon, E. Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A. & Guerrini, R., 2019, In : Brain. 142, 12, p. 3876-3891 16 p.

Research output: Contribution to journalArticle

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H. & 8 others, Wortmann, S., Levanon, E. Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A. & Guerrini, R., Dec 1 2019, In : Brain : a journal of neurology. 142, 12, p. 3876-3891 16 p.

Research output: Contribution to journalArticle

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study

Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I. & 15 others, Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A. & Santorelli, F. M., 2018, In : Orphanet Journal of Rare Diseases. 13

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

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

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

Changes in transcription activity in the rat brain following the acute administration of typical and atypical neuroleptics

Barone, P., Fiorillo, C., Morone, A., Vitale, C. & De Bartolomeis, A., 1999, In : Italian Journal of Neurological Sciences. 20, 4, p. 271-272 2 p.

Research output: Contribution to journalArticle

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, M., Assereto, S., Baratto, S., Iacomino, M., Pedemonte, M., Diana, M. C., Ferretti, M., Broda, P., Minetti, C., Gazzerro, E., Madia, F., Bruno, C., Zara, F. & Fiorillo, C., Jun 2018, In : Journal of Human Genetics. 63, 6, p. 761-764 4 p.

Research output: Contribution to journalArticle

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

Nikolic, A., Ricci, G., Sera, F., Bucci, E., Govi, M., Mele, F., Rossi, M., Ruggiero, L., Vercelli, L., Ravaglia, S., Brisca, G., Fiorillo, C., Villa, L., Maggi, L., Cao, M., D'Amico, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

Nikolic, A., Ricci, G., Sera, F., Bucci, E., Govi, M., Mele, F., Rossi, M., Ruggiero, L., Vercelli, L., Ravaglia, S., Brisca, G., Fiorillo, C., Villa, L., Maggi, L., Cao, M., D'Amico, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

Nikolic, A., Ricci, G., Sera, F., Bucci, E., Govi, M., Mele, F., Rossi, M., Ruggiero, L., Vercelli, L., Ravaglia, S., Brisca, G., Fiorillo, C., Villa, L., Maggi, L., Cao, M., D'Amico, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

Nikolic, A., Ricci, G., Sera, F., Bucci, E., Govi, M., Mele, F., Rossi, M., Ruggiero, L., Vercelli, L., Ravaglia, S., Brisca, G., Fiorillo, C., Villa, L., Maggi, L., Cao, M., D'Amico, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

Nikolic, A., Ricci, G., Sera, F., Bucci, E., Govi, M., Mele, F., Rossi, M., Ruggiero, L., Vercelli, L., Ravaglia, S., Brisca, G., Fiorillo, C., Villa, L., Maggi, L., Cao, M., D'Amico, M. C., Siciliano, G., Antonini, G., Santoro, L., Mongini, T. & 11 others, Moggio, M. G., Morandi, L., Pegoraro, E., Angelini, C., Di Muzio, A., Rodolico, C., Tomelleri, G., D'Angelo, M. G., Bruno, C., Berardinelli, A. L. & Tupler, R., 2016, In : BMJ Open. 6, 1, e007798.

Research output: Contribution to journalArticle

Congenital myopathies: clinical phenotypes and new diagnostic tools

Lenzi, S., Cassandrini, D., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M. & Italian Network on Congenital Myopathies, Nov 15 2017, In : Italian Journal of Pediatrics. 43, 1, p. 101

Research output: Contribution to journalReview article

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

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

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

Cranial neuralgias: From physiopathology to pharmacological treatment

Simone, R., Ranieri, A., Bilo, L., Fiorillo, C. & Bonavita, V., May 2008, In : Neurological Sciences. 29, SUPPL. 1

Research output: Contribution to journalArticle

De novo FTL mutation: A clinical, neuroimaging, and molecular study

Storti, E., Cortese, F., Di Fabio, R., Fiorillo, C., Pierallini, A., Tessa, A., Valleriani, A., Pierelli, F., Santorelli, F. M. & Casali, C., Feb 2013, In : Movement Disorders. 28, 2, p. 252-253 2 p.

Research output: Contribution to journalArticle

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Detection of early nocturnal hypoventilation in neuromuscular disorders

Trucco, F., Pedemonte, M., Fiorillo, C., Tan, H-L., Carlucci, A., Brisca, G., Tacchetti, P., Bruno, C. & Minetti, C., Mar 2018, In : Journal of International Medical Research. 46, 3, p. 1153-1161 9 p.

Research output: Contribution to journalArticle

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Marchese, M., Pappalardo, A., Baldacci, J., Verri, T., Doccini, S., Cassandrini, D. A., Bruno, C., Fiorillo, C., Garcia-Gil, M., Bertini, E. S., Pitto, L. & Santorelli, F. M., Aug 12 2016, In : Biochemical and Biophysical Research Communications. 477, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Marchese, M., Pappalardo, A., Baldacci, J., Verri, T., Doccini, S., Cassandrini, D., Bruno, C., Fiorillo, C., Garcia-Gil, M., Bertini, E., Pitto, L. & Santorelli, F. M., Aug 12 2016, In : Biochemical and Biophysical Research Communications. 477, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler

Parisi, M., Galderisi, M., Sidiropulos, M., Fiorillo, C., Lanzillo, R., D'Errico, A., Grieco, M., Innelli, P., Santoro, L. & de Divitiis, O., May 31 2007, In : International Journal of Cardiology. 118, 2, p. 227-232 6 p.

Research output: Contribution to journalArticle

Early onset calpainopathy with normal non-functional calpain 3 level

Lanzillo, R., Aurino, S., Fanin, M., Aguennoz, M., Vitale, F., Fiorillo, C., Del Giudice, E., Nigro, V. & Santoro, L., Apr 2006, In : Developmental Medicine and Child Neurology. 48, 4, p. 304-306 3 p.

Research output: Contribution to journalArticle

Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation

Brisca, G., Fiorillo, C., Nesti, C., Trucco, F., Derchi, M., Andaloro, A., Assereto, S., Morcaldi, G., Pedemonte, M., Minetti, C., Santorelli, F. M. & Bruno, C., Mar 13 2015, In : Biochemical and Biophysical Research Communications. 458, 3, p. 601-604 4 p.

Research output: Contribution to journalArticle

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study

Falsaperla, R., Vitaliti, G., Collotta, A. D., Fiorillo, C., Pulvirenti, A., Alaimo, S., Romano, C. & Ruggieri, M., Jun 1 2018, In : Journal of Child Neurology. 33, 7, p. 487-492 6 p.

Research output: Contribution to journalArticle

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

Trovato, R., Astrea, G., Bartalena, L., Ghirri, P., Baldacci, J., Giampietri, M., Battini, R., Santorelli, F. M. & Fiorillo, C., Mar 2014, In : Journal of Child Neurology. 29, 3, p. 394-398 5 p.

Research output: Contribution to journalArticle

Enhancement of muscle T regulatory cells and improvement of muscular dystrophic process in mdx mice by blockade of extracellular ATP/P2X axis

Gazzerro, E., Baldassari, S., Assereto, S., Fruscione, F., Pistorio, A., Panicucci, C., Volpi, S., Perruzza, L., Fiorillo, C., Minetti, C., Traggiai, E., Grassi, F. & Bruno, C., Dec 1 2015, In : American Journal of Pathology. 185, 12, p. 3349-3360 12 p.

Research output: Contribution to journalArticle

Erratum: Aged endothelial nitric oxide synthase knockout mice exhibit higher mortality concomitant with impaired open-field habituation and alterations in forebrain neurotransmitter levels (Genes, Brain and Behavior 1 (204-213))

Dere, E., De Souza Silva, M. A., Topic, B., Fiorillo, C., Li, J. S., Sadile, A. G., Frisch, C. & Huston, J. P., Feb 2003, In : Genes, Brain and Behavior. 2, 1, p. 64 1 p.

Research output: Contribution to journalArticle

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1343-1344 2 p.

Research output: Contribution to journalArticle

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

Dubbioso, R., Moretta, P., Manganelli, F., Fiorillo, C., Iodice, R., Trojano, L. & Santoro, L., May 2012, In : Journal of Neurology. 259, 5, p. 833-837 5 p.

Research output: Contribution to journalArticle

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