Detalhe da pesquisa
1.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
2.
De novo GRIN2A variants associated with epilepsy and autism and literature review.
Epilepsy Behav
; 129: 108604, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217385
3.
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
4.
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
5.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445196
6.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
7.
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
8.
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
Neurol Sci
; 40(3): 457-468, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554356
9.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Hum Mutat
; 39(1): 140-151, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034544
10.
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
BMC Med Genet
; 17: 25, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005958
11.
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
BMC Med Genet
; 16: 53, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204956
12.
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
Muscle Nerve
; 52(1): 13-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363165
13.
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
Hum Mutat
; 35(3): 298-302, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307404
14.
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
Acta Myol
; 33(3): 136-43, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873782
15.
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
Genes (Basel)
; 15(2)2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397198
16.
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.
J Neuromuscul Dis
; 11(2): 375-387, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189759
17.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
J Neuromuscul Dis
; 11(2): 285-297, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363615
18.
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Biochem Biophys Res Commun
; 430(1): 241-4, 2013 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146629
19.
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Genes (Basel)
; 14(7)2023 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510268
20.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965175