Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
3.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
4.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
5.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761294
6.
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Genet Med
; 23(4): 787-792, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288880
7.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
8.
Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.
Proc Natl Acad Sci U S A
; 115(28): E6566-E6575, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946036
9.
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Brain
; 140(11): 2851-2859, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053766
10.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
J Med Genet
; 59(10): 947-950, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782440
11.
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Hum Mol Genet
; 24(13): 3638-50, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25801283
12.
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
BMC Genet
; 17(1): 71, 2016 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245440
13.
Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
Brain
; 143(11): e92, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169137
14.
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
BMC Musculoskelet Disord
; 17: 109, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932181
15.
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
N Engl J Med
; 362(13): 1203-10, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20357282
16.
Myosinopathies: pathology and mechanisms.
Acta Neuropathol
; 125(1): 3-18, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22918376
17.
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Brain
; 135(Pt 6): 1682-94, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577218
18.
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Hum Mol Genet
; 24(21): 6264, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26345447
19.
Distal arthrogryposis: clinical and genetic findings.
Acta Paediatr
; 101(8): 877-87, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22519952
20.
Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.
BMC Musculoskelet Disord
; 13: 262, 2012 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273262