Detalhe da pesquisa
1.
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
Pharmacol Res
; 141: 224-235, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611854
2.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935101
3.
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
Neurol Sci
; 34(7): 1057-63, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22592564
4.
Persistence of abnormal electrophysiological findings after carpal tunnel release.
J Reconstr Microsurg
; 29(8): 511-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23757154
5.
Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects.
Brain Sci
; 12(8)2022 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009100
6.
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.
Front Neurol
; 11: 300, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655465
7.
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4.
Front Neurol
; 11: 255, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32411069
8.
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
Neurol Sci
; 35(12): 2005-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24844793
9.
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Neurology
; 86(22): 2100-8, 2016 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164696
10.
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.
Clin Neurophysiol
; 126(2): 399-403, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065301
11.
Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience.
Clin Neurol Neurosurg
; 135: 6-10, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001516
12.
A Case of Hemiabdominal Myoclonus.
Clin EEG Neurosci
; 46(4): 331-4, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25301885
13.
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.
J Neurol Sci
; 341(1-2): 46-50, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726093
14.
Clinical-neurophysiological correlations in a series of patients with IgM-related neuropathy.
Clin Neurophysiol
; 124(9): 1899-903, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643315
15.
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases.
Intern Med
; 52(18): 2031-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24042509
16.
Polymorphism of CAG motif of SK3 gene is associated with acute oxaliplatin neurotoxicity.
Cancer Chemother Pharmacol
; 67(5): 1179-87, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20872144
17.
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
J Clin Neurophysiol
; 28(1): 39-44, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21221019
18.
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.
Clin Neurophysiol
; 126(12): 2406-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25842253
19.
Lower motor neuron involvement in longitudinally extensive transverse myelitis with and without aquaporin-4 antibodies.
Clin Neurophysiol
; 125(9): 1925-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24525092
20.
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Neuromuscul Disord
; 19(11): 779-83, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19773168