Detalhe da pesquisa
1.
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Int J Mol Sci
; 24(22)2023 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003406
2.
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Neuropathol Appl Neurobiol
; 48(1): e12743, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164833
3.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta Neuropathol
; 144(4): 707-731, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948834
4.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Eur J Neurol
; 29(8): 2398-2411, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460302
5.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
6.
Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatment.
J Peripher Nerv Syst
; 25(2): 162-170, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32364302
7.
The role of electrodiagnosis with long exercise test in mcardle disease.
Muscle Nerve
; 2018 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350794
8.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Hum Mutat
; 38(5): 556-568, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28144995
9.
Guillain-Barré Syndrome outbreak associated with Zika virus infection in French Polynesia: a case-control study.
Lancet
; 387(10027): 1531-1539, 2016 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26948433
10.
Physiological and ultrastructural features of human induced pluripotent and embryonic stem cell-derived skeletal myocytes in vitro.
Proc Natl Acad Sci U S A
; 111(22): 8275-80, 2014 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24843168
11.
Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
Muscle Nerve
; 53(2): 310-2, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26575860
12.
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
J Neurol Neurosurg Psychiatry
; 91(8): 898-900, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32487525
13.
Synthesis and activities towards resistant cancer cells of sulfone and sulfoxide griseofulvin derivatives.
Bioorg Med Chem Lett
; 25(10): 2078-81, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25872984
14.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
15.
Increase in cases of Guillain-Barré syndrome during a Chikungunya outbreak, French Polynesia, 2014 to 2015.
Euro Surveill
; 20(48): 30079, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690898
16.
Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal.
J Neurol Neurosurg Psychiatry
; 85(8): 901-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24309269
17.
Is total duration of distal compound muscle action potential better than negative peak duration in the diagnosis of chronic inflammatory demyelinating polyneuropathy?
Muscle Nerve
; 49(6): 895-9, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24114712
18.
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.
Brain
; 136(Pt 8): 2359-68, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824486
19.
[Channels: a new way to revisit pathology]. / La pathologie revisitée par les canaux.
Bull Acad Natl Med
; 198(2): 225-41; discussion 241-2, 2014 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-26263701
20.
[Congenital myasthenic syndromes; French experience]. / Syndromes myasthéniques congénitaux - L'expérience française.
Bull Acad Natl Med
; 198(2): 257-70; discussion 270-1, 2014 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-26263703