19992020

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1999

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

2002

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

Selective inhibition of neuronal nitric oxide synthesis reduces hyperactivity and increases non-selective attention in the Naples High-Excitability rat

Grammatikopoulos, G., Pignatelli, M., D'Amico, F., Fiorillo, C., Fresiello, A. & Sadile, A. G., Mar 10 2002, In : Behavioural Brain Research. 130, 1-2, p. 127-132 6 p.

Research output: Contribution to journalArticle

2003

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

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

2005

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

Sudden re-opening of collapsed transverse sinuses and longstanding clinical remission after a single lumbar puncture in a case of idiopathic intracranial hypertension. Pathogenetic implications

De Simone, R., Marano, E., Fiorillo, C., Briganti, F., Di Salle, F., Volpe, A. & Bonavita, V., Feb 2005, In : Neurological Sciences. 25, 6, p. 342-344 3 p.

Research output: Contribution to journalArticle

2006

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

2007

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

2008

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

2010

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

Is idiopathic intracranial hypertension without papilledema a risk factor for migraine progression?

De Simone, R., Ranieri, A., Fiorillo, C., Bilo, L. & Bonavita, V., Aug 2010, In : Neurological Sciences. 31, 4, p. 411-415 5 p.

Research output: Contribution to journalArticle

Perioral skin biopsy to study skeletal muscle protein expression

Santoro, L., Nolano, M., Faraso, S., Fiorillo, C., Vitiello, C., Provitera, V., Aurino, S. & Nigro, V., Mar 2010, In : Muscle and Nerve. 41, 3, p. 392-398 7 p.

Research output: Contribution to journalArticle

2011

Genotype - Phenotype correlations in a large series of patients with muscle type CPT II deficiency

Anichini, A., Fanin, M., Vianey-Saban, C., Cassandrini, D., Fiorillo, C., Bruno, C. & Angelini, C., Jan 1 2011, In : Neurological Research. 33, 1, p. 24-32 9 p.

Research output: Contribution to journalArticle

Sinus venous stenosis-associated IIHWOP is a powerful risk factor for progression and refractoriness of pain in primary headache patients: A review of supporting evidences

De Simone, R., Ranieri, A., Montella, S., Erro, R., Fiorillo, C. & Bonavita, V., May 2011, In : Neurological Sciences. 32, SUPPL. 1

Research output: Contribution to journalArticle

2012

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

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

Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling

Scionti, I., Fabbri, G., Fiorillo, C., Ricci, G., Greco, F., D'Amico, R., Termanini, A., Vercelli, L., Tomelleri, G., Cao, M., Santoro, L., Percesepe, A. & Tupler, R., Mar 2012, In : Journal of Medical Genetics. 49, 3, p. 171-178 8 p.

Research output: Contribution to journalArticle

Muscle MRI in TRPV4-related congenital distal SMA

Astrea, G., Brisca, G., Fiorillo, C., Valle, M., Tosetti, M., Bruno, C., Santorelli, F. M. & Battini, R., Jan 31 2012, In : Neurology. 78, 5, p. 364-365 2 p.

Research output: Contribution to journalArticle

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Fiorillo, C., Moro, F., Brisca, G., Astrea, G., Nesti, C., Bálint, Z., Olschewski, A., Meschini, M. C., Guelly, C., Auer-Grumbach, M., Battini, R., Pedemonte, M., Romano, A., Menchise, V., Biancheri, R., Santorelli, F. M. & Bruno, C., Aug 2012, In : Neurogenetics. 13, 3, p. 195-203 9 p.

Research output: Contribution to journalArticle

2013

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

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

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Tasca, G., Moro, F., Aiello, C., Cassandrini, D., Fiorillo, C., Bertini, E., Bruno, C., Santorelli, F. M. & Ricci, E., Mar 5 2013, In : Neurology. 80, 10, p. 963-965 3 p.

Research output: Contribution to journalArticle

Neuromuscular disorders in zebrafish: State of the art and future perspectives

Pappalardo, A., Pitto, L., Fiorillo, C., Alice Donati, M., Bruno, C. & Santorelli, F. M., Jun 2013, In : NeuroMolecular Medicine. 15, 2, p. 405-419 15 p.

Research output: Contribution to journalArticle

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Fiorillo, C., Moro, F., Astrea, G., Morales, M. A., Baldacci, J., Marchese, M., Scapolan, S., Bruno, C., Battini, R. & Santorelli, F. M., Dec 2013, In : Neuromuscular Disorders. 23, 12, p. 1010-1015 6 p.

Research output: Contribution to journalArticle

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Fiorillo, C., Brisca, G., Cassandrini, D., Scapolan, S., Astrea, G., Valle, M., Scuderi, F., Trucco, F., Natali, A., Magnano, G., Gazzerro, E., Minetti, C., Arca, M., Santorelli, F. M. & Bruno, C., Jan 4 2013, In : Biochemical and Biophysical Research Communications. 430, 1, p. 241-244 4 p.

Research output: Contribution to journalArticle

2014

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

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

Tessa, A., Fiorillo, C., De Grandis, D., Astrea, G., Perazza, S., Filla, A. & Santorelli, F. M., Oct 20 2014, In : Canadian Journal of Neurological Sciences. 41, 5, p. 666-668 3 p.

Research output: Contribution to journalArticle

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Fiorillo, C., Moro, F., Yi, J., Weil, S., Brisca, G., Astrea, G., Severino, M., Romano, A., Battini, R., Rossi, A., Minetti, C., Bruno, C., Santorelli, F. M. & Vallee, R., 2014, In : Human Mutation. 35, 3, p. 298-302 5 p.

Research output: Contribution to journalArticle

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2

Battini, R., D'Arrigo, S., Cassandrini, D., Guzzetta, A., Fiorillo, C., Pantaleoni, C., Romano, A., Alfei, E., Cioni, G. & Santorelli, F. M., 2014, In : Journal of Child Neurology. 29, 4, p. 520-525 6 p.

Research output: Contribution to journalArticle

Vaccination recommendations for patients with neuromuscular disease

Esposito, S., Bruno, C., Berardinelli, A., Filosto, M., Mongini, T., Morandi, L., Musumeci, O., Pegoraro, E., Siciliano, G., Tonin, P., Marrosu, G., Minetti, C., Servida, M., Fiorillo, C., Conforti, G., Scapolan, S., Ansaldi, F., Vianello, A., Castaldi, S., Principi, N. & 2 others, Toscano, A. & Moggio, M., Oct 14 2014, In : Vaccine. 32, 45, p. 5893-5900 8 p.

Research output: Contribution to journalArticle

2015

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

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

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

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

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

Papa, R., Madia, F., Bartolomeo, D., Trucco, F., Pedemonte, M., Traverso, M., Broda, P., Bruno, C., Zara, F., Minetti, C. & Fiorillo, C., Jul 14 2015, (Accepted/In press) In : Pediatric Neurology.

Research output: Contribution to journalArticle

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

Ruggiero, L., Fiorillo, C., Tessa, A., Manganelli, F., Iodice, R., Dubbioso, R., Vitale, F., Storti, E., Soscia, E., Santorelli, F. & Santoro, L., Apr 1 2015, In : Muscle and Nerve. 51, 4, p. 604-608 5 p.

Research output: Contribution to journalArticle

2016

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

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

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

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

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Bauché, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacène, E., Remerand, G., Beaufrere, A. M., Pebrel-Richard, C., Thevenon, J., El Chehadeh-Djebbar, S., Faivre, L., Duffourd, Y., Ricci, F., Mongini, T. & 22 others, Fiorillo, C., Astrea, G., Burloiu, C. M., Butoianu, N., Sandu, C., Servais, L., Bonne, G., Nelson, I., Desguerre, I., Nougues, M. C., Bœuf, B., Romero, N. B., Laporte, J., Boland, A., Lechner, D., Deleuze, J. F., Fontaine, B., Strochlic, L., Lochmuller, H., Eymard, B., Mayer, M. & Nicole, S., Apr 4 2016, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D’Amico, A., Tasca, S., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D. A., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L. & 18 others, Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E. S., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M. & Bruno, C., Jul 7 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 91.

Research output: Contribution to journalArticle