387 related articles for article (PubMed ID: 22068469)
1. [Collagen VI-related muscle disorders].
Higuchi I
Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
[TBL] [Abstract][Full Text] [Related]
2. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
Higuchi I
Rinsho Shinkeigaku; 2005 Nov; 45(11):935-7. PubMed ID: 16447767
[TBL] [Abstract][Full Text] [Related]
3. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL; Mörgelin M; Peat R; Goemans N; North KN; Bateman JF; Lamandé SR
Hum Mol Genet; 2005 Jan; 14(2):279-93. PubMed ID: 15563506
[TBL] [Abstract][Full Text] [Related]
4. Collagen type VI myopathies.
Bushby KM; Collins J; Hicks D
Adv Exp Med Biol; 2014; 802():185-99. PubMed ID: 24443028
[TBL] [Abstract][Full Text] [Related]
5. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P
Neuropediatrics; 2004 Apr; 35(2):103-12. PubMed ID: 15127309
[TBL] [Abstract][Full Text] [Related]
6. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
Caria F; Cescon M; Gualandi F; Pichiecchio A; Rossi R; Rimessi P; Cotti Piccinelli S; Gallo Cassarino S; Gregorio I; Galvagni A; Ferlini A; Padovani A; Bonaldo P; Filosto M
Neuromuscul Disord; 2019 Sep; 29(9):657-663. PubMed ID: 31471117
[TBL] [Abstract][Full Text] [Related]
7. Collagen VI related muscle disorders.
Lampe AK; Bushby KM
J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002
[TBL] [Abstract][Full Text] [Related]
8. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Lampe AK; Zou Y; Sudano D; O'Brien KK; Hicks D; Laval SH; Charlton R; Jimenez-Mallebrera C; Zhang RZ; Finkel RS; Tennekoon G; Schreiber G; van der Knaap MS; Marks H; Straub V; Flanigan KM; Chu ML; Muntoni F; Bushby KM; Bönnemann CG
Hum Mutat; 2008 Jun; 29(6):809-22. PubMed ID: 18366090
[TBL] [Abstract][Full Text] [Related]
9. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
Antoniel M; Traina F; Merlini L; Andrenacci D; Tigani D; Santi S; Cenni V; Sabatelli P; Faldini C; Squarzoni S
Cells; 2020 Feb; 9(2):. PubMed ID: 32053901
[TBL] [Abstract][Full Text] [Related]
10. Autosomal dominant Ullrich congenital muscular dystrophy due to a
Picillo E; Torella A; Passamano L; Nigro V; Politano L
Acta Myol; 2022 Jun; 41(2):95-98. PubMed ID: 35832501
[TBL] [Abstract][Full Text] [Related]
11. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
Peat RA; Baker NL; Jones KJ; North KN; Lamandé SR
Neuromuscul Disord; 2007 Jul; 17(7):547-57. PubMed ID: 17537636
[TBL] [Abstract][Full Text] [Related]
12. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
Bönnemann CG
Handb Clin Neurol; 2011; 101():81-96. PubMed ID: 21496625
[TBL] [Abstract][Full Text] [Related]
13. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Zanoteli E; Soares PS; Silva AMSD; Camelo CG; Fonseca ATQSM; Albuquerque MAV; Moreno CAM; Lopes Abath Neto O; Novo Filho GM; Kulikowski LD; Reed UC
Clin Neurol Neurosurg; 2020 May; 192():105734. PubMed ID: 32065942
[TBL] [Abstract][Full Text] [Related]
14. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK; Dunn DM; von Niederhausern AC; Hamil C; Aoyagi A; Laval SH; Marie SK; Chu ML; Swoboda K; Muntoni F; Bonnemann CG; Flanigan KM; Bushby KM; Weiss RB
J Med Genet; 2005 Feb; 42(2):108-20. PubMed ID: 15689448
[TBL] [Abstract][Full Text] [Related]
15. COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Bao M; Mao F; Zhao Z; Ma G; Xu G; Xu W; Chen H; Zhu M
BMC Neurol; 2019 Feb; 19(1):32. PubMed ID: 30808312
[TBL] [Abstract][Full Text] [Related]
16. Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Yonekawa T; Nishino I
J Neurol Neurosurg Psychiatry; 2015 Mar; 86(3):280-7. PubMed ID: 24938411
[TBL] [Abstract][Full Text] [Related]
17. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Zamurs LK; Idoate MA; Hanssen E; Gomez-Ibañez A; Pastor P; Lamandé SR
J Biol Chem; 2015 Feb; 290(7):4272-81. PubMed ID: 25533456
[TBL] [Abstract][Full Text] [Related]
18. Collagen VI in the Musculoskeletal System.
Di Martino A; Cescon M; D'Agostino C; Schilardi F; Sabatelli P; Merlini L; Faldini C
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982167
[TBL] [Abstract][Full Text] [Related]
19. Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Kawahara G; Okada M; Morone N; Ibarra CA; Nonaka I; Noguchi S; Hayashi YK; Nishino I
Neurology; 2007 Sep; 69(10):1043-9. PubMed ID: 17785674
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
