Search details
1.
Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis.
Circ Res
; 130(2): 184-199, 2022 01 21.
Article
in English
| MEDLINE | ID: mdl-34886684
2.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33217308
3.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Article
in English
| MEDLINE | ID: mdl-38124360
4.
Mutation update for the ACTN2 gene.
Hum Mutat
; 43(12): 1745-1756, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36116040
5.
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.
Int J Mol Sci
; 23(13)2022 Jun 23.
Article
in English
| MEDLINE | ID: mdl-35805973
6.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Neurogenetics
; 22(1): 33-41, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33405017
7.
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
Hum Mol Genet
; 28(10): 1579-1593, 2019 05 15.
Article
in English
| MEDLINE | ID: mdl-30576443
8.
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Ann Neurol
; 88(2): 274-282, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32386344
9.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31794073
10.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32403198
11.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Hum Mutat
; 41(1): 17-37, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31448844
12.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
J Med Genet
; 56(9): 617-621, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30327447
13.
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.
Neuropathology
; 40(6): 559-569, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33073872
14.
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Acta Neuropathol
; 137(3): 501-519, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30701273
15.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol
; 81(3): 467-473, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28220527
16.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27816943
17.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat
; 38(4): 426-438, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28058752
18.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28012042
19.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Am J Hum Genet
; 92(2): 271-8, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23332920
20.
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.
PLoS Genet
; 9(6): e1003430, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23754947