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Leto
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
10522018
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, ...
Nature genetics 27 (2), 181-186, 2001
8332001
Spinal muscular atrophy
A D'Amico, E Mercuri, FD Tiziano, E Bertini
Orphanet journal of rare diseases 6, 1-10, 2011
7332011
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ...
Nature genetics 44 (9), 1030-1034, 2012
4262012
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
C Andreassi, C Angelozzi, FD Tiziano, T Vitali, E De Vincenzi, ...
European journal of human genetics 12 (1), 59-65, 2004
3422004
Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy
C Cifuentes-Diaz, T Frugier, FD Tiziano, E Lacène, N Roblot, V Joshi, ...
The Journal of cell biology 152 (5), 1107-1114, 2001
3052001
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
N Wolf, M Quaranta, NJ Prescott, M Allen, R Smith, AD Burden, ...
Journal of medical genetics 45 (2), 114-116, 2008
295*2008
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
T Frugier, FD Tiziano, C Cifuentes-Diaz, P Miniou, N Roblot, A Dierich, ...
Human molecular genetics 9 (5), 849-858, 2000
2942000
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
L Boccuto, M Lauri, SM Sarasua, CD Skinner, D Buccella, A Dwivedi, ...
European Journal of Human Genetics 21 (3), 310-316, 2013
2882013
Spinal muscular atrophy
E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel
Nature Reviews Disease Primers 8 (1), 52, 2022
2492022
Gene targeting restricted to mouse striated muscle lineage
P Miniou, D Tiziano, T Frugier, N Roblot, M Le Meur, J Melki
Nucleic acids research 27 (19), e27-e30, 1999
2421999
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
C Brahe, T Vitali, FD Tiziano, C Angelozzi, AM Pinto, F Borgo, U Moscato, ...
European Journal of Human Genetics 13 (2), 256-259, 2005
2142005
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ...
Neurology 68 (1), 51-55, 2007
2032007
Pilot trial of phenylbutyrate in spinal muscular atrophy
E Mercuri, E Bertini, S Messina, M Pelliccioni, A D'Amico, F Colitto, ...
Neuromuscular Disorders 14 (2), 130-135, 2004
1812004
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study
TO Crawford, SV Paushkin, DT Kobayashi, SJ Forrest, CL Joyce, ...
PloS one 7 (4), e33572, 2012
1732012
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
J Zhou, M Tawk, FD Tiziano, J Veillet, M Bayes, F Nolent, V Garcia, ...
The American Journal of Human Genetics 91 (1), 5-14, 2012
1632012
Developmental milestones in type I spinal muscular atrophy
R De Sanctis, G Coratti, A Pasternak, J Montes, M Pane, ES Mazzone, ...
Neuromuscular Disorders 26 (11), 754-759, 2016
1612016
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
E Panagiotakaki, E De Grandis, M Stagnaro, EL Heinzen, C Fons, ...
Orphanet journal of rare diseases 10, 1-13, 2015
1602015
Refined characterization of the expression and stability of the SMN gene products
J Vitte, C Fassier, FD Tiziano, C Dalard, S Soave, N Roblot, C Brahe, ...
The American journal of pathology 171 (4), 1269-1280, 2007
1442007
Nusinersen in type 1 spinal muscular atrophy: twelve‐month real‐world data
M Pane, G Coratti, VA Sansone, S Messina, C Bruno, M Catteruccia, ...
Annals of neurology 86 (3), 443-451, 2019
1222019
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