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1.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37695206
2.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38656662
3.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Eur J Neurol
; 30(6): 1755-1763, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36880698
4.
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Eur J Neurol
; 30(1): 69-86, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36148821
5.
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
Brain
; 144(9): 2635-2647, 2021 10 22.
Article
in English
| MEDLINE | ID: mdl-33905493
6.
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Eur J Pediatr
; 181(5): 1923-1932, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35048179
7.
Spinal muscular atrophy: state of the art and new therapeutic strategies.
Neurol Sci
; 43(Suppl 2): 615-624, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-33871750
8.
Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates.
J Endocrinol Invest
; 45(3): 517-525, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34524678
9.
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy.
J Clin Pharm Ther
; 47(9): 1478-1481, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35924856
10.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32926458
11.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle Nerve
; 64(5): 552-559, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34327716
12.
Which are the factors influencing NIV adaptation and tolerance in ALS patients?
Neurol Sci
; 42(3): 1023-1029, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32710206
13.
Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.
Int J Mol Sci
; 22(9)2021 Apr 21.
Article
in English
| MEDLINE | ID: mdl-33919289
14.
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen.
J Pediatr
; 219: 223-228.e4, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32035635
15.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Ann Neurol
; 86(3): 443-451, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31228281
16.
Effect of exercise on telomere length and telomere proteins expression in mdx mice.
Mol Cell Biochem
; 470(1-2): 189-197, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32447718
17.
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
Neurol Sci
; 41(4): 859-868, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31811531
18.
ALS Cognitive Behavioral Screen (ALS-CBS): normative values for the Italian population and clinical usability.
Neurol Sci
; 41(4): 835-841, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31807998
19.
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
J Med Genet
; 56(5): 293-300, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30593463
20.
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
Neurol Sci
; 40(4): 671-681, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30805745