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1.
MuSK Antibody-Associated Myasthenia Gravis With SARS-CoV-2 Infection: A Case Report.
Ann Intern Med
; 174(6): 872-873, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33428437
2.
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Neurogenetics
; 17(1): 65-70, 2016 01.
Article
in English
| MEDLINE | ID: mdl-26556812
3.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Am J Hum Genet
; 90(4): 628-35, 2012 Apr 06.
Article
in English
| MEDLINE | ID: mdl-22482803
4.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain
; 136(Pt 11): 3408-17, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24030947
5.
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
J Med Genet
; 49(3): 171-8, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22217918
6.
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation.
Neurol Neuroimmunol Neuroinflamm
; 10(6)2023 11.
Article
in English
| MEDLINE | ID: mdl-37582613
7.
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Neurogenetics
; 18(1): 69, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27913898
8.
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Neurogenetics
; 17(2): 143, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26924555
9.
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Muscle Nerve
; 42(2): 213-7, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20544930
10.
Myasthenia Gravis With Antibodies Against Muscle Specific Kinase: An Update on Clinical Features, Pathophysiology and Treatment.
Front Mol Neurosci
; 13: 159, 2020.
Article
in English
| MEDLINE | ID: mdl-32982689
11.
SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.
Neurol Neuroimmunol Neuroinflamm
; 7(1)2020 01.
Article
in English
| MEDLINE | ID: mdl-31831571
12.
Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients.
JCI Insight
; 4(12)2019 06 20.
Article
in English
| MEDLINE | ID: mdl-31217355
13.
FSHD1 and FSHD2 form a disease continuum.
Neurology
; 92(19): e2273-e2285, 2019 05 07.
Article
in English
| MEDLINE | ID: mdl-30979860
14.
Serological and experimental studies in different forms of myasthenia gravis.
Ann N Y Acad Sci
; 1413(1): 143-153, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29377162
15.
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
BMJ Open
; 6(1): e007798, 2016 Jan 05.
Article
in English
| MEDLINE | ID: mdl-26733561
16.
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
J Neurol
; 263(6): 1204-14, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27126453
17.
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy.
Clin Neurol Neurosurg
; 114(3): 230-4, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22079131
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