Detalhe da pesquisa
1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
2.
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
Mov Disord
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38619077
3.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
4.
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.
Am J Med Genet A
; 188(12): 3531-3534, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975723
5.
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era.
J Genet Couns
; 31(3): 803-814, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037741
6.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics
; 50(11): 929-939, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345904
7.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Am J Hum Genet
; 96(4): 612-22, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817016
8.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
J Hum Genet
; 62(2): 243-252, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708273
9.
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty.
Muscle Nerve
; 63(3): 282-284, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382457
10.
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Muscle Nerve
; 54(4): 690-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934379
11.
"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.
J Genet Couns
; 24(2): 325-35, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25277096
12.
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Adv Genet (Hoboken)
; 4(1): 2200013, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910591
13.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics
; 13(2): 115-24, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371254
14.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734998
15.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC Med Genet
; 12: 87, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708040
16.
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Int J Neonatal Screen
; 7(2)2021 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071063
17.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun
; 12(1): 1135, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602924
18.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics
; 11(4): 449-55, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20623375
19.
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.
J Card Fail
; 16(3): 194-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206892
20.
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
Muscle Nerve
; 41(6): 746-50, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513101