Detalhe da pesquisa
1.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124360
2.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
3.
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
4.
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
5.
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
6.
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
7.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955641
8.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
9.
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
10.
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
11.
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
12.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Am J Hum Genet
; 97(4): 616-20, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365340
13.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130637
14.
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Hum Mol Genet
; 22(8): 1483-92, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236030
15.
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
16.
[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
17.
Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.
Neurol Clin Pract
; 14(3): e200277, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737513
18.
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Neurol Clin Pract
; 14(3): e200228, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690148
19.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Ann Clin Transl Neurol
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703036
20.
Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
Muscle Nerve
; 58(4): E27-E28, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028520