Search details
1.
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
2.
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
3.
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
4.
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
5.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33974137
6.
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Hum Mol Genet
; 26(19): 3736-3748, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28934386
7.
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Ann Neurol
; 83(2): 269-282, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29328520
8.
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Acta Neuropathol
; 137(3): 501-519, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30701273
9.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Muscle Nerve
; 59(1): 137-141, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30025162
10.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30168660
11.
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
12.
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
13.
Mutation-specific effects on thin filament length in thin filament myopathy.
Ann Neurol
; 79(6): 959-69, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27074222
14.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28685322
15.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28012042
16.
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
17.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Article
in English
| MEDLINE | ID: mdl-23746549
18.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26670690
19.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Ann Neurol
; 76(6): 891-8, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25272951
20.
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.
Muscle Nerve
; 52(5): 895-9, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25959956