These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 32367299)

  • 1. Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
    Panadés-de Oliveira L; Bermejo-Guerrero L; de Fuenmayor-Fernández de la Hoz CP; Cantero Montenegro D; Hernández Lain A; Martí P; Muelas N; Vilchez JJ; Domínguez-González C
    J Neurol; 2020 Sep; 267(9):2546-2555. PubMed ID: 32367299
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.
    Mahajan S; Dhall A; Jassal B; Saluja A; Faruq M; Suri V; Rajan R; Vishnu VY; Sharma MC
    Neurol India; 2022; 70(5):2169-2173. PubMed ID: 36352632
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
    Papadopoulos C; LaforÊt P; Nectoux J; Stojkovic T; Wahbi K; Carlier RY; Carlier PG; Leonard-Louis S; Leturcq F; Romero N; Eymard B; Behin A
    Muscle Nerve; 2017 Dec; 56(6):1096-1100. PubMed ID: 28187523
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
    Soontrapa P; Liewluck T
    Genes (Basel); 2022 Sep; 13(10):. PubMed ID: 36292621
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular findings in a cohort of ANO5-related myopathy.
    Silva AMS; Coimbra-Neto AR; Souza PVS; Winckler PB; Gonçalves MVM; Cavalcanti EBU; Carvalho AADS; Sobreira CFDR; Camelo CG; Mendonça RDH; Estephan EDP; Reed UC; Machado-Costa MC; Dourado-Junior MET; Pereira VC; Cruzeiro MM; Helito PVP; Aivazoglou LU; Camargo LVD; Gomes HH; Camargo AJSD; Pinto WBVDR; Badia BML; Libardi LH; Yanagiura MT; Oliveira ASB; Nucci A; Saute JAM; França-Junior MC; Zanoteli E
    Ann Clin Transl Neurol; 2019 Jul; 6(7):1225-1238. PubMed ID: 31353849
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.
    Lahoria R; Winder TL; Lui J; Al-Owain MA; Milone M
    Muscle Nerve; 2014 Oct; 50(4):610-3. PubMed ID: 24889862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
    Penttilä S; Palmio J; Suominen T; Raheem O; Evilä A; Muelas Gomez N; Tasca G; Waddell LB; Clarke NF; Barboi A; Hackman P; Udd B
    Neurology; 2012 Mar; 78(12):897-903. PubMed ID: 22402862
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
    Seguí F; Gonzalez-Quereda L; Sanchez A; Matas-García A; Garrabou G; Rodriguez MJ; Gallano P; Grau JM; Milisenda JC
    Neurol Sci; 2020 Oct; 41(10):2967-2971. PubMed ID: 32399949
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.
    Cai S; Gao M; Xi J; Liu Z; Yue D; Wu H; Bi H; Li J; Liang Z; Zhao C; Udd B; Luo S; Lu J
    Neuromuscul Disord; 2019 Aug; 29(8):628-633. PubMed ID: 31350120
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
    Vázquez J; Lefeuvre C; Escobar RE; Luna Angulo AB; Miranda Duarte A; Delia Hernandez A; Brisset M; Carlier RY; Leturcq F; Durand-Canard MC; Nicolas G; Laforet P; Malfatti E
    J Neuromuscul Dis; 2020; 7(4):443-451. PubMed ID: 32925086
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Muscle biopsy and MRI findings in ANO5-related myopathy.
    Holm-Yildiz S; Witting N; de Stricker Borch J; Kass K; Khawajazada T; Krag T; Vissing J
    Muscle Nerve; 2021 Dec; 64(6):743-748. PubMed ID: 34550615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
    Savarese M; Di Fruscio G; Tasca G; Ruggiero L; Janssens S; De Bleecker J; Delpech M; Musumeci O; Toscano A; Angelini C; Sacconi S; Santoro L; Ricci E; Claes K; Politano L; Nigro V
    Neuromuscul Disord; 2015 Jul; 25(7):533-41. PubMed ID: 25891276
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
    Deschauer M; Joshi PR; Gläser D; Hanisch F; Stoltenburg G; Zierz S
    Nervenarzt; 2011 Dec; 82(12):1596-603. PubMed ID: 21739273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
    Kadoya M; Ogata K; Suzuki M; Honma Y; Momma K; Yatabe K; Tamura T; Kaida K; Miyata N; Nishino I; Nonaka I; Kawai M
    Neuromuscul Disord; 2017 May; 27(5):477-480. PubMed ID: 28214267
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
    Witting N; Duno M; Petri H; Krag T; Bundgaard H; Kober L; Vissing J
    J Neurol; 2013 Aug; 260(8):2084-93. PubMed ID: 23670307
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
    de Bruyn A; Montagnese F; Holm-Yildiz S; Scharff Poulsen N; Stojkovic T; Behin A; Palmio J; Jokela M; De Bleecker JL; de Visser M; van der Kooi AJ; Ten Dam L; Domínguez González C; Maggi L; Gallone A; Kostera-Pruszczyk A; Macias A; Łusakowska A; Nedkova V; Olive M; Álvarez-Velasco R; Wanschitz J; Paradas C; Mavillard F; Querin G; Fernández-Eulate G; Quinlivan R; Walter MC; Depuydt CE; Udd B; Vissing J; Schoser B; Claeys KG
    Brain; 2023 Sep; 146(9):3800-3815. PubMed ID: 36913258
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
    Sarkozy A; Hicks D; Hudson J; Laval SH; Barresi R; Hilton-Jones D; Deschauer M; Harris E; Rufibach L; Hwang E; Bashir R; Walter MC; Krause S; van den Bergh P; Illa I; Pénisson-Besnier I; De Waele L; Turnbull D; Guglieri M; Schrank B; Schoser B; Seeger J; Schreiber H; Gläser D; Eagle M; Bailey G; Walters R; Longman C; Norwood F; Winer J; Muntoni F; Hanna M; Roberts M; Bindoff LA; Brierley C; Cooper RG; Cottrell DA; Davies NP; Gibson A; Gorman GS; Hammans S; Jackson AP; Khan A; Lane R; McConville J; McEntagart M; Al-Memar A; Nixon J; Panicker J; Parton M; Petty R; Price CJ; Rakowicz W; Ray P; Schapira AH; Swingler R; Turner C; Wagner KR; Maddison P; Shaw PJ; Straub V; Bushby K; Lochmüller H
    Hum Mutat; 2013 Aug; 34(8):1111-8. PubMed ID: 23606453
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
    Hicks D; Sarkozy A; Muelas N; Köehler K; Huebner A; Hudson G; Chinnery PF; Barresi R; Eagle M; Polvikoski T; Bailey G; Miller J; Radunovic A; Hughes PJ; Roberts R; Krause S; Walter MC; Laval SH; Straub V; Lochmüller H; Bushby K
    Brain; 2011 Jan; 134(Pt 1):171-182. PubMed ID: 21186264
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
    Bolduc V; Marlow G; Boycott KM; Saleki K; Inoue H; Kroon J; Itakura M; Robitaille Y; Parent L; Baas F; Mizuta K; Kamata N; Richard I; Linssen WH; Mahjneh I; de Visser M; Bashir R; Brais B
    Am J Hum Genet; 2010 Feb; 86(2):213-21. PubMed ID: 20096397
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.