Search details
1.
Protein Aggregates and Aggrephagy in Myopathies.
Int J Mol Sci
; 24(9)2023 May 08.
Article
in English
| MEDLINE | ID: mdl-37176163
2.
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.
Muscle Nerve
; 62(2): 266-271, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32363625
3.
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
J Med Genet
; 52(9): 617-26, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26136523
4.
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Acta Neuropathol
; 140(2): 231-235, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32451610
5.
Late adult-onset of X-linked myopathy with excessive autophagy.
Muscle Nerve
; 50(1): 138-44, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24488655
6.
Expanding the central nervous system disease spectrum associated with FLNC mutation.
Muscle Nerve
; 59(5): E33-E37, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30734317
7.
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
J Biol Chem
; 287(30): 25650-9, 2012 Jul 20.
Article
in English
| MEDLINE | ID: mdl-22669944
8.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Acta Neuropathol
; 125(3): 439-57, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23315026
9.
VCP-related myopathy: a case series and a review of literature.
Acta Myol
; 42(1): 2-13, 2023.
Article
in English
| MEDLINE | ID: mdl-37091525
10.
Glycogen hyperphosphorylation underlies lafora body formation.
Ann Neurol
; 68(6): 925-33, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-21077101
11.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
J Neuromuscul Dis
; 7(2): 153-166, 2020.
Article
in English
| MEDLINE | ID: mdl-32039858
12.
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.
Ann Clin Transl Neurol
; 6(4): 807-811, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31020005
13.
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Hum Mutat
; 29(2): 258-66, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-17994539
14.
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
J Neurol
; 270(9): 4538-4543, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37145156
15.
Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis.
Matrix Biol
; 74: 77-100, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29981373
16.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
JAMA Neurol
; 75(5): 557-565, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29435569
17.
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.
Front Mol Biosci
; 3: 63, 2016.
Article
in English
| MEDLINE | ID: mdl-27747217
18.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Neurology
; 87(1): 71-6, 2016 07 05.
Article
in English
| MEDLINE | ID: mdl-27281536
19.
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Arch Neurol
; 62(10): 1582-6, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16216942
20.
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
J Child Neurol
; 30(13): 1749-56, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25895915