Detalhe da pesquisa
1.
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Am J Med Genet A
; 191(2): 546-553, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317804
2.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393337
3.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
4.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
5.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
6.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523598
7.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Brain
; 137(Pt 5): 1323-36, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24727571
8.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
9.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
J Neurol Neurosurg Psychiatry
; 85(12): 1359-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695763
10.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
; 136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288328
11.
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Clin Rehabil
; 28(5): 508-19, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24240060
12.
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
J Neuromuscul Dis
; 11(1): 179-189, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108361
13.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
14.
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Clin Genet
; 83(2): 187-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22428906
15.
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Neuromuscul Disord
; 33(9): 98-105, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598009
16.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Neurol Genet
; 9(5): e200093, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37588275
17.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat
; 33(6): 981-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473935
18.
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Neuromuscul Disord
; 32(11-12): 893-902, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207221
19.
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
J Neuromuscul Dis
; 9(6): 803-808, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057830
20.
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Neuromuscul Disord
; 32(5): 377-389, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361525