Detalhe da pesquisa
1.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883641
2.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
3.
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
J Med Genet
; 56(3): 164-175, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487246
4.
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Am J Hum Genet
; 98(3): 473-489, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26924529
5.
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
Hum Genet
; 136(7): 903-910, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540413
6.
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
J Med Genet
; 52(9): 607-11, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26048982
7.
Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.
Mol Ther
; 22(8): 1423-1433, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861054
8.
Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.
Am J Physiol Regul Integr Comp Physiol
; 307(4): R444-54, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24965795
9.
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease.
Cells
; 12(4)2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831273
10.
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.
JIMD Rep
; 43: 27-35, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654543
11.
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
Neurol Genet
; 1(4): e32, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066569
12.
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
Neurology
; 84(5): 523-31, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25568292