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 *

130 related articles for article (PubMed ID: 33652732)

  • 1. Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
    Potulska-Chromik A; Jędrzejowska M; Gos M; Rosiak E; Kierdaszuk B; Maruszak A; Opuchlik A; Zekanowski C; Fichna JP
    J Clin Med; 2021 Feb; 10(5):. PubMed ID: 33652732
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myofibrillar myopathy in the genomic context.
    Fichna JP; Maruszak A; Żekanowski C
    J Appl Genet; 2018 Nov; 59(4):431-439. PubMed ID: 30203143
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.
    Liewluck T; Kintarak J; Sangruchi T; Selcen D; Kulkantrakorn K
    J Med Assoc Thai; 2009 Feb; 92(2):290-5. PubMed ID: 19253808
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
    D'Avila F; Meregalli M; Lupoli S; Barcella M; Orro A; De Santis F; Sitzia C; Farini A; D'Ursi P; Erratico S; Cristofani R; Milanesi L; Braga D; Cusi D; Poletti A; Barlassina C; Torrente Y
    J Muscle Res Cell Motil; 2016 Jun; 37(3):101-15. PubMed ID: 27443559
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
    Machnicki MM; Guglielmi V; Pancheri E; Gualandi F; Verriello L; Pruszczyk K; Kosinska J; Sangalli A; Rydzanicz M; Romanelli MG; Neri M; Ploski R; Tonin P; Tomelleri G; Stoklosa T; Vattemi G
    Neurol Sci; 2021 Jul; 42(7):2819-2827. PubMed ID: 33170376
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
    Semmler AL; Sacconi S; Bach JE; Liebe C; Bürmann J; Kley RA; Ferbert A; Anderheiden R; Van den Bergh P; Martin JJ; De Jonghe P; Neuen-Jacob E; Müller O; Deschauer M; Bergmann M; Schröder JM; Vorgerd M; Schulz JB; Weis J; Kress W; Claeys KG
    Orphanet J Rare Dis; 2014 Aug; 9():121. PubMed ID: 25208129
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
    Bortolani S; Savarese M; Vattemi G; Bonanno S; Falzone YM; Pugliese A; Primiano G; Sancricca C; Lopergolo D; Greco G; Gemelli C; Ravaglia S; Bencivenga RP; Velardo D; Magri F; Valentino ML; Cheli M; Torchia E; Lucchini M; Petrucci A; Ricci G; Garibaldi M; Astrea G; Rubegni A; Angelini CI; Ariatti A; Santorelli FM; Ruggieri A; Antonini G; Siciliano G; Filosto M; Mirabella M; Liguori R; Comi GP; Ruggiero L; Grandis M; Massa R; Malandrini A; Servidei S; Mongini TE; Rodolico C; Toscano A; Previtali SC; Tonin P; Diaz-Manera J; Monforte M; Ricci E; Maggi L; Tasca G
    Neurology; 2024 Aug; 103(4):e209697. PubMed ID: 39102614
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
    Olivé M; Odgerel Z; Martínez A; Poza JJ; Bragado FG; Zabalza RJ; Jericó I; Gonzalez-Mera L; Shatunov A; Lee HS; Armstrong J; Maraví E; Arroyo MR; Pascual-Calvet J; Navarro C; Paradas C; Huerta M; Marquez F; Rivas EG; Pou A; Ferrer I; Goldfarb LG
    Neuromuscul Disord; 2011 Aug; 21(8):533-42. PubMed ID: 21676617
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.
    Ebrahimzadeh-Vesal R; Teymoori A; Dourandish AM; Azimi-Nezhad M
    Genes Dis; 2018 Dec; 5(4):331-334. PubMed ID: 30591934
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
    Avila-Smirnow D; Gueneau L; Batonnet-Pichon S; Delort F; Bécane HM; Claeys K; Beuvin M; Goudeau B; Jais JP; Nelson I; Richard P; Ben Yaou R; Romero NB; Wahbi K; Mathis S; Voit T; Furst D; van der Ven P; Gil R; Vicart P; Fardeau M; Bonne G; Behin A
    Rev Neurol (Paris); 2016 Oct; 172(10):594-606. PubMed ID: 27633507
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel dominant D109A
    Fichna JP; Potulska-Chromik A; Miszta P; Redowicz MJ; Kaminska AM; Zekanowski C; Filipek S
    BBA Clin; 2017 Jun; 7():1-7. PubMed ID: 27904835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
    JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in myotilin cause myofibrillar myopathy.
    Selcen D; Engel AG
    Neurology; 2004 Apr; 62(8):1363-71. PubMed ID: 15111675
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
    Carvalho AAS; Lacene E; Brochier G; Labasse C; Madelaine A; Silva VGD; Corazzini R; Papadopoulos K; Behin A; Laforêt P; Stojkovic T; Eymard B; Fardeau M; Romero N
    Genet Test Mol Biomarkers; 2018 Jun; 22(6):374-383. PubMed ID: 29924655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
    Selcen D; Ohno K; Engel AG
    Brain; 2004 Feb; 127(Pt 2):439-51. PubMed ID: 14711882
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis.
    Valberg SJ; Finno CJ; Henry ML; Schott M; Velez-Irizarry D; Peng S; McKenzie EC; Petersen JL
    Equine Vet J; 2021 Jul; 53(4):690-700. PubMed ID: 32896939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Myofibrillar myopathy].
    Hayashi YK
    Brain Nerve; 2011 Nov; 63(11):1179-88. PubMed ID: 22068470
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Myofibrillar myopaathy].
    Hayashi Y
    Rinsho Shinkeigaku; 2013; 53(11):1105-8. PubMed ID: 24291893
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
    Luo YB; Peng Y; Lu Y; Li Q; Duan H; Bi F; Yang H
    Front Neurol; 2020; 11():1014. PubMed ID: 33041974
    [No Abstract]   [Full Text] [Related]  

  • 20. Myofibrillar myopathies: State of the art, present and future challenges.
    Béhin A; Salort-Campana E; Wahbi K; Richard P; Carlier RY; Carlier P; Laforêt P; Stojkovic T; Maisonobe T; Verschueren A; Franques J; Attarian S; Maues de Paula A; Figarella-Branger D; Bécane HM; Nelson I; Duboc D; Bonne G; Vicart P; Udd B; Romero N; Pouget J; Eymard B
    Rev Neurol (Paris); 2015 Oct; 171(10):715-29. PubMed ID: 26342832
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.