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Chiara Marini Bettolo
Chiara Marini Bettolo
Other namesCM Bettolo, C Marini-Bettolo, C Marini Betollo
Verified email at newcastle.ac.uk
Title
Cited by
Cited by
Year
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study
K Aragon-Gawinska, AM Seferian, A Daron, E Gargaun, C Vuillerot, ...
Neurology 91 (14), e1312-e1318, 2018
1132018
Intracortical excitability in patients with relapsing–remitting and secondary progressive multiple sclerosis
A Conte, D Lenzi, V Frasca, F Gilio, E Giacomelli, M Gabriele, ...
Journal of neurology 256, 933-938, 2009
892009
MRI in sarcoglycanopathies: a large international cohort study
G Tasca, M Monforte, J Díaz-Manera, G Brisca, C Semplicini, A D’Amico, ...
Journal of Neurology, Neurosurgery & Psychiatry 89 (1), 72-77, 2018
722018
Cannabinoid-induced effects on the nociceptive system: A neurophysiological study in patients with secondary progressive multiple sclerosis
A Conte, CM Bettolo, E Onesti, V Frasca, E Iacovelli, F Gilio, E Giacomelli, ...
European Journal of Pain 13 (5), 472-477, 2009
712009
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
672021
Acute and chronic effects of ethanol on cortical excitability
A Conte, ML Attilia, F Gilio, E Iacovelli, V Frasca, CM Bettolo, M Gabriele, ...
Clinical Neurophysiology 119 (3), 667-674, 2008
622008
Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment
M Wiessner, A Roos, CJ Munn, R Viswanathan, T Whyte, D Cox, ...
The American Journal of Human Genetics 100 (3), 523-536, 2017
602017
Reduced serum myostatin concentrations associated with genetic muscle disease progression
PM Burch, O Pogoryelova, J Palandra, R Goldstein, D Bennett, L Fitz, ...
Journal of neurology 264, 541-553, 2017
582017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
E Harris, A Topf, R Barresi, J Hudson, H Powell, J Tellez, D Hicks, ...
Orphanet Journal of Rare Diseases 12, 1-12, 2017
532017
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
A Barp, P Laforet, L Bello, G Tasca, J Vissing, M Monforte, E Ricci, ...
Journal of neurology 267, 45-56, 2020
522020
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
NE Johnson, EZ Aldana, N Angeard, T Ashizawa, KN Berggren, ...
Neurology: Clinical Practice 9 (5), 443-454, 2019
502019
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
K Aragon‐Gawinska, A Daron, A Ulinici, L Vanden Brande, A Seferian, ...
Developmental Medicine & Child Neurology 62 (3), 310-314, 2020
482020
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
A Alonso-Jimenez, RH Kroon, A Alejaldre-Monforte, C Nuñez-Peralta, ...
Journal of Neurology, Neurosurgery & Psychiatry 90 (5), 576-585, 2019
442019
Clinical variability in spinal muscular atrophy type III
G Coratti, S Messina, S Lucibello, MC Pera, J Montes, A Pasternak, ...
Annals of Neurology 88 (6), 1109-1117, 2020
432020
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ...
European Journal of Human Genetics 29 (9), 1337-1347, 2021
422021
Respiratory trajectories in type 2 and 3 spinal muscular atrophy in the iSMAC cohort study
F Trucco, D Ridout, M Scoto, G Coratti, ML Main, R Muni Lofra, ...
Neurology 96 (4), e587-e599, 2021
412021
Sleepiness and sleep-related breathing disorders in myotonic dystrophy and responses to treatment: a prospective cohort study
SD West, H Lochmüller, J Hughes, A Atalaia, C Marini-Bettolo, ...
Journal of Neuromuscular Diseases 3 (4), 529-537, 2016
412016
Influence of the corticospinal tract on the cutaneous silent period: a study in patients with pyramidal syndrome
F Gilio, CM Bettolo, A Conte, E Iacovelli, V Frasca, M Serrao, E Giacomelli, ...
Neuroscience letters 433 (2), 109-113, 2008
412008
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
E Harris, U Burki, C Marini-Bettolo, M Neri, C Scotton, J Hudson, M Bertoli, ...
Neuromuscular disorders 27 (9), 861-872, 2017
402017
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
N Vasli, E Harris, J Karamchandani, E Bareke, J Majewski, NB Romero, ...
Brain 140 (1), 37-48, 2017
382017
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