Detalhe da pesquisa
1.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
2.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
3.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Hum Genet
; 137(11-12): 911-919, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460542
4.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989088
5.
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
J Neurol Neurosurg Psychiatry
; 87(1): 49-52, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882930
6.
Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.
Neuropediatrics
; 46(1): 44-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265422
7.
Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
Neuropediatrics
; 46(4): 282-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110311
8.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Front Neurol
; 14: 1276238, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125836
9.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
J Neuromuscul Dis
; 7(2): 153-166, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039858
10.
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
Acta Myol
; 37(3): 193-203, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838349
11.
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
J Neurol
; 263(4): 743-50, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26886200
12.
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
Neuromuscul Disord
; 25(9): 719-24, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231297
13.
Early infantile sensory-motor neuropathy with late onset respiratory distress.
Neuromuscul Disord
; 24(3): 269-71, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24342282
14.
Palladium-catalyzed C-S coupling: access to thioethers, benzo[b]thiophenes, and thieno[3,2-b]thiophenes.
Org Lett
; 13(15): 4100-3, 2011 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21732682