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Chiara Fiorillo
Chiara Fiorillo
Email verificata su edu.unige.it
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Anno
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
2132019
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
1462010
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
1252017
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
1172021
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
1162005
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
1152018
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
1152016
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
1112017
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
1022014
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
942008
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
932018
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
862019
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
862016
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
862016
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
802020
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
782018
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
692012
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
672013
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
632019
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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