Detalhe da pesquisa
1.
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Hum Mol Genet
; 32(21): 3029-3039, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070754
2.
Differential isoform expression and selective muscle involvement in muscular dystrophies.
Am J Pathol
; 185(10): 2833-42, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269091
3.
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
Ann Neurol
; 77(1): 163-72, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428574
4.
Distal myopathies in Finnish patients.
Duodecim
; 132(18): 1635-44, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29188941
5.
Atypical phenotypes in titinopathies explained by second titin mutations.
Ann Neurol
; 75(2): 230-40, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395473
6.
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
Muscle Nerve
; 52(4): 673-80, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809233
7.
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Hum Mutat
; 35(7): 868-79, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664454
8.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620354
9.
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.
Neurol Genet
; 10(3): e200155, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725677
10.
[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients]. / Hartia-lantiodystrofioiden (LGMD) kasvava kirjo--uusia tautigeenejä löytyy myös Suomesta.
Duodecim
; 129(19): 2011-20, 2013.
Artigo
em Finlandês
| MEDLINE | ID: mdl-24218732
11.
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.
J Neurol Neurosurg Psychiatry
; 88(3): 272-277, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27810918
12.
TARDBP mutations are not a frequent cause of ALS in Finnish patients.
Acta Myol
; 31(2): 134-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23097605
13.
Reply: To PMID 25428574.
Ann Neurol
; 78(5): 831-2, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26095158
14.
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
15.
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
J Neuromuscul Dis
; 6(1): 143-146, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372688
16.
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.
Neurol Genet
; 5(3): e337, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192305
17.
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
J Neurol
; 266(3): 680-690, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666435
18.
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
J Clin Invest
; 128(3): 1164-1177, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29457785
19.
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.
Neurology
; 88(16): 1520-1527, 2017 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28330959
20.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Neuromuscul Disord
; 27(7): 627-630, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478914