Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
3.
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.
Eur J Neurol
; 31(1): e16060, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37724986
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880698
5.
Myeloid neoplasms and autoimmune diseases: markers of association.
Clin Exp Rheumatol
; 40(1): 49-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427624
6.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Eur J Pediatr
; 181(8): 2919-2926, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575813
7.
Development and application of a diagnostic and severity scale to grade post-operative pediatric cerebellar mutism syndrome.
Eur J Pediatr
; 181(3): 941-950, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34651204
8.
Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.
Neurol Sci
; 43(2): 1311-1326, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097175
9.
Is purchasing of vegetable dishes affected by organic or local labels? Empirical evidence from a university canteen.
Appetite
; 173: 105995, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248656
10.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
11.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
12.
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
Muscle Nerve
; 63(3): 384-391, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341951
13.
A three-year longitudinal study on the use of pre-ordering in a university canteen.
Appetite
; 163: 105203, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741449
14.
The CoV-2 outbreak: how hematologists could help to fight Covid-19.
Pharmacol Res
; 157: 104866, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387301
15.
Erythropoietin treatment in chronic phase chronic myeloid leukemia patients treated with frontline imatinib who developed late anemia.
Eur J Haematol
; 105(3): 286-291, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32365249
16.
The Italian consensus conference on the role of rehabilitation for children and adolescents with leukemia, central nervous system, and bone tumors, part 1: Review of the conference and presentation of consensus statements on rehabilitative evaluation of motor aspects.
Pediatr Blood Cancer
; 67(12): e28681, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940000
17.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
18.
The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.
Cancer Cell Int
; 19: 83, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992690
19.
Mentalization and depressive symptoms in a clinical sample of adolescents and young adults.
Child Adolesc Ment Health
; 22(2): 69-76, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32680319
20.
Intra-tumoral IFN-γ-producing Th22 cells correlate with TNM staging and the worst outcomes in pancreatic cancer.
Clin Sci (Lond)
; 130(4): 247-58, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26590104