88 related articles for article (PubMed ID: 24938411)
1. 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]
2. Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.
Bolduc V; Minor KM; Hu Y; Kaur R; Friedenberg SG; Van Buren S; Guo LT; Glennon JC; Marioni-Henry K; Mickelson JR; Bönnemann CG; Shelton GD
Neuromuscul Disord; 2020 May; 30(5):360-367. PubMed ID: 32439203
[TBL] [Abstract][Full Text] [Related]
3. Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Cenni V; Sabatelli P; Di Martino A; Merlini L; Antoniel M; Squarzoni S; Neri S; Santi S; Metti S; Bonaldo P; Faldini C
Cells; 2024 Feb; 13(5):. PubMed ID: 38474342
[TBL] [Abstract][Full Text] [Related]
4. The recurrent deep intronic pseudoexon-inducing variant
Foley AR; Bolduc V; Guirguis F; Donkervoort S; Hu Y; Orbach R; McCarty RM; Sarathy A; Norato G; Cummings BB; Lek M; Sarkozy A; Butterfield RJ; Kirschner J; Nascimento A; Benito DN; Quijano-Roy S; Stojkovic T; Merlini L; Comi G; Ryan M; McDonald D; Munot P; Yoon G; Leung E; Finanger E; Leach ME; Collins J; Tian C; Mohassel P; Neuhaus SB; Saade D; Cocanougher BT; Chu ML; Scavina M; Grosmann C; Richardson R; Kossak BD; Gospe SM; Bhise V; Taurina G; Lace B; Troncoso M; Shohat M; Shalata A; Chan SHS; Jokela M; Palmio J; Haliloğlu G; Jou C; Gartioux C; Solomon-Degefa H; Freiburg CD; Schiavinato A; Zhou H; Aguti S; Nevo Y; Nishino I; Jimenez-Mallebrera C; Lamandé SR; Allamand V; Gualandi F; Ferlini A; MacArthur DG; Wilton SD; Wagener R; Bertini E; Muntoni F; Bönnemann CG
medRxiv; 2024 Mar; ():. PubMed ID: 38585825
[TBL] [Abstract][Full Text] [Related]
5. Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in
El Sherif R; Saito Y; Awaya T; Noguchi S; Nishino I
Neurol Genet; 2024 Apr; 10(2):e200137. PubMed ID: 38544966
[TBL] [Abstract][Full Text] [Related]
6. Collagen type VI regulates TGFβ bioavailability in skeletal muscle.
Mohassel P; Rooney J; Zou Y; Johnson K; Norato G; Hearn H; Nalls MA; Yun P; Ogata T; Silverstein S; Sleboda DA; Roberts TJ; Rifkin DB; Bönnemann CG
bioRxiv; 2023 Jun; ():. PubMed ID: 38586035
[TBL] [Abstract][Full Text] [Related]
7. Paternal germline mosaicism in collagen VI related myopathies.
Armaroli A; Trabanelli C; Scotton C; Venturoli A; Selvatici R; Brisca G; Merlini L; Bruno C; Ferlini A; Gualandi F
Eur J Paediatr Neurol; 2015 Sep; 19(5):533-6. PubMed ID: 25978941
[TBL] [Abstract][Full Text] [Related]
8. Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy.
Lamande SR
J Biol Chem; 2015 Mar; 290(12):8012. PubMed ID: 25964954
[No Abstract] [Full Text] [Related]
9. Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.
Chakrabarty B; Sharma MC; Gulati S; Sarkar C
J Child Neurol; 2017 Dec; 32(14):1099-1103. PubMed ID: 29129153
[TBL] [Abstract][Full Text] [Related]
10. Congenital myopathies and muscular dystrophies.
Gilbreath HR; Castro D; Iannaccone ST
Neurol Clin; 2014 Aug; 32(3):689-703, viii. PubMed ID: 25037085
[TBL] [Abstract][Full Text] [Related]
11. Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Aguti S; Bolduc V; Ala P; Turmaine M; Bönnemann CG; Muntoni F; Zhou H
Mol Ther Nucleic Acids; 2020 Sep; 21():205-216. PubMed ID: 32585628
[TBL] [Abstract][Full Text] [Related]
12. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M; Sarkozy A; Bertoli M; Astrea G; Hudson J; Scoto M; Mein R; Yau M; Phadke R; Feng L; Sewry C; Fen ANS; Longman C; McCullagh G; Straub V; Robb S; Manzur A; Bushby K; Muntoni F
Neuromuscul Disord; 2017 Sep; 27(9):793-803. PubMed ID: 28688748
[TBL] [Abstract][Full Text] [Related]
13. Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.
Lamandé SR; Bateman JF
Matrix Biol; 2018 Oct; 71-72():348-367. PubMed ID: 29277723
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical approach to tremor in children.
Torres-Russotto D
Parkinsonism Relat Disord; 2019 Feb; 59():111-116. PubMed ID: 30952437
[TBL] [Abstract][Full Text] [Related]
16. Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M; Zammit PS
Eur J Transl Myol; 2022 Mar; 32(1):. PubMed ID: 35302338
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.
Fraser KL; Wong S; Foley AR; Chhibber S; Bönnemann CG; Lesser DJ; Grosmann C; Rutkowski A
ERJ Open Res; 2017 Apr; 3(2):. PubMed ID: 28660205
[TBL] [Abstract][Full Text] [Related]
19. Molecular mechanisms and therapeutic strategies for neuromuscular diseases.
Andrea ZA; Matteo FY; Alessandra B; Carlo PS
Cell Mol Life Sci; 2024 Apr; 81(1):198. PubMed ID: 38678519
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
