AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 213 | 2019 |
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score C Lamperti, G Fabbri, L Vercelli, R D'Amico, R Frusciante, E Bonifazi, ... Muscle & nerve 42 (2), 213-217, 2010 | 146 | 2010 |
Congenital myopathies: clinical phenotypes and new diagnostic tools D Cassandrini, R Trovato, A Rubegni, S Lenzi, C Fiorillo, J Baldacci, ... Italian journal of pediatrics 43, 1-16, 2017 | 125 | 2017 |
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ... Nature medicine 27 (7), 1197-1204, 2021 | 117 | 2021 |
Sudden re-opening of collapsed transverse sinuses and longstanding clinical remission after a single lumbar puncture in a case of idiopathic intracranial hypertension … R De Simone, E Marano, C Fiorillo, F Briganti, F Di Salle, A Volpe, ... Neurological Sciences 25, 342-344, 2005 | 116 | 2005 |
Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 115 | 2018 |
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ... Neurology 87 (1), 71-76, 2016 | 115 | 2016 |
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ... Muscle & nerve 55 (1), 55-68, 2017 | 111 | 2017 |
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development C Fiorillo, F Moro, J Yi, S Weil, G Brisca, G Astrea, M Severino, A Romano, ... Human mutation 35 (3), 298-302, 2014 | 102 | 2014 |
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients | 94* | 2016 |
A refined diagnostic algorithm for Bethlem myopathy D Hicks, AK Lampe, R Barresi, R Charlton, C Fiorillo, CG Bonnemann, ... Neurology 70 (14), 1192-1199, 2008 | 94 | 2008 |
Interpreting genetic variants in titin in patients with muscle disorders M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ... JAMA neurology 75 (5), 557-565, 2018 | 93 | 2018 |
Muscle expression of type I and type II interferons is increased in juvenile dermatomyositis and related to clinical and histologic features GM Moneta, D Pires Marafon, E Marasco, S Rosina, M Verardo, C Fiorillo, ... Arthritis & Rheumatology 71 (6), 1011-1021, 2019 | 86 | 2019 |
Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea S Bauché, S O’regan, Y Azuma, F Laffargue, G McMacken, D Sternberg, ... The American Journal of Human Genetics 99 (3), 753-761, 2016 | 86 | 2016 |
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry A Nikolic, G Ricci, F Sera, E Bucci, M Govi, F Mele, M Rossi, L Ruggiero, ... BMJ open 6 (1), e007798, 2016 | 86 | 2016 |
The genetic landscape of dystrophin mutations in Italy: a nationwide study M Neri, R Rossi, C Trabanelli, A Mauro, R Selvatici, MS Falzarano, ... Frontiers in genetics 11, 131, 2020 | 80 | 2020 |
Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study A D'Amore, A Tessa, C Casali, MT Dotti, A Filla, G Silvestri, A Antenora, ... Frontiers in neurology 9, 981, 2018 | 78 | 2018 |
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling I Scionti, G Fabbri, C Fiorillo, G Ricci, F Greco, R D'Amico, A Termanini, ... Journal of medical genetics 49 (3), 171-178, 2012 | 69 | 2012 |
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort M Catteruccia, F Fattori, V Codemo, L Ruggiero, L Maggi, G Tasca, ... Neuromuscular Disorders 23 (3), 229-238, 2013 | 67 | 2013 |
Stem cell modeling of neuroferritinopathy reveals iron as a determinant of senescence and ferroptosis during neuronal aging A Cozzi, DI Orellana, P Santambrogio, A Rubio, C Cancellieri, S Giannelli, ... Stem Cell Reports 13 (5), 832-846, 2019 | 63 | 2019 |