Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
3.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
4.
Amyotrophic Lateral Sclerosis in Southwestern and Eastern Finland.
Neuroepidemiology
; 57(4): 238-245, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399804
5.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain
; 145(11): 3985-3998, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957489
6.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
7.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
8.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Hum Mol Genet
; 27(4): 706-715, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315381
9.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
10.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Neurobiol Dis
; 119: 159-171, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30092269
11.
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease.
Ann Neurol
; 91(1): 158-159, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786741
12.
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
13.
Distal myopathies in Finnish patients.
Duodecim
; 132(18): 1635-44, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29188941
14.
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
J Neurol
; 271(4): 1802-1812, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38055022
15.
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Neuromuscul Disord
; 35: 29-32, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219297
16.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
17.
[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 Fi
| MEDLINE | ID: mdl-24218732
18.
Distal myopathy.
Handb Clin Neurol
; 195: 497-519, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562883
19.
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Neurology
; 101(18): e1779-e1786, 2023 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679049
20.
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