Search details
1.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Eur J Pediatr
; 2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38634892
2.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
J Med Genet
; 60(7): 697-705, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36414255
3.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Eur J Pediatr
; 181(7): 2821-2829, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35522315
4.
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Hum Mol Genet
; 24(11): 3248-56, 2015 Jun 01.
Article
in English
| MEDLINE | ID: mdl-25736212
5.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Muscle Nerve
; 55(6): 841-848, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27668838
6.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Mol Ther
; 22(11): 2004-12, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25052852
7.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Arch Dis Child
; 109(5): 395-401, 2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38290776
8.
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
Acta Biomed
; 94(S1): e2023097, 2023 03 08.
Article
in English
| MEDLINE | ID: mdl-36883684
9.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Orphanet J Rare Dis
; 18(1): 338, 2023 Oct 27.
Article
in English
| MEDLINE | ID: mdl-37891668
10.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes (Basel)
; 14(2)2023 01 23.
Article
in English
| MEDLINE | ID: mdl-36833224
11.
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Neurol Genet
; 5(5): e352, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31517061
12.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Adv Ther
; 36(5): 1177-1189, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30879255
13.
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
Ital J Pediatr
; 44(1): 90, 2018 Aug 13.
Article
in English
| MEDLINE | ID: mdl-30103768
14.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Orphanet J Rare Dis
; 13(1): 32, 2018 02 08.
Article
in English
| MEDLINE | ID: mdl-29422078
15.
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.
PLoS One
; 9(10): e108205, 2014.
Article
in English
| MEDLINE | ID: mdl-25271887
16.
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
PLoS One
; 9(1): e83400, 2014.
Article
in English
| MEDLINE | ID: mdl-24421885
17.
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
JAMA Neurol
; 70(9): 1177-9, 2013 Sep 01.
Article
in English
| MEDLINE | ID: mdl-23836383
18.
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy.
PLoS One
; 8(1): e52512, 2013.
Article
in English
| MEDLINE | ID: mdl-23326337
19.
Management of status dystonicus in children. Cases report and review.
Eur J Paediatr Neurol
; 16(4): 390-5, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22244366
20.
Infantile-Onset Pompe Disease: The Care Beyond the Cure.
J Neuromuscul Dis
; 2(s1): S58-S59, 2015.
Article
in English
| MEDLINE | ID: mdl-27858649