Detalhe da pesquisa
1.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet
; 99(3): 607-623, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588448
2.
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.
Acta Neuropathol
; 127(5): 761-77, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24362440
3.
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
Neuromuscul Disord
; 25(7): 577-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25953320
4.
Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(7): 803-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005867
5.
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
Neurology
; 83(19): 1726-32, 2014 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274842
6.
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(8): 962, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220135