BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 21921439)

  • 1. [Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy].
    Nishino I
    Rinsho Shinkeigaku; 2010 Nov; 50(11):779. PubMed ID: 21921439
    [No Abstract]   [Full Text] [Related]  

  • 2. [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].
    Nishino I
    Rinsho Shinkeigaku; 2010 Jan; 50(1):1-6. PubMed ID: 20120346
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
    Munteanu I; Ramachandran N; Ruggieri A; Awaya T; Nishino I; Minassian BA
    Neurology; 2015 Apr; 84(16):1714-6. PubMed ID: 25817839
    [No Abstract]   [Full Text] [Related]  

  • 4. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
    Ramachandran N; Munteanu I; Wang P; Ruggieri A; Rilstone JJ; Israelian N; Naranian T; Paroutis P; Guo R; Ren ZP; Nishino I; Chabrol B; Pellissier JF; Minetti C; Udd B; Fardeau M; Tailor CS; Mahuran DJ; Kissel JT; Kalimo H; Levy N; Manolson MF; Ackerley CA; Minassian BA
    Acta Neuropathol; 2013 Mar; 125(3):439-57. PubMed ID: 23315026
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
    Nishino I; Fu J; Tanji K; Yamada T; Shimojo S; Koori T; Mora M; Riggs JE; Oh SJ; Koga Y; Sue CM; Yamamoto A; Murakami N; Shanske S; Byrne E; Bonilla E; Nonaka I; DiMauro S; Hirano M
    Nature; 2000 Aug; 406(6798):906-10. PubMed ID: 10972294
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Food for thought: autophagic vacuolar myopathies.
    Strehle EM
    Arch Dis Child; 2009 Aug; 94(8):567-9. PubMed ID: 19628877
    [No Abstract]   [Full Text] [Related]  

  • 7. Juvenile autophagic vacuolar myopathy - a new entity or variant?
    Stenzel W; Nishino I; von Moers A; Kadry MA; Glaeser D; Heppner FL; Goebel HH
    Neuropathol Appl Neurobiol; 2013 Jun; 39(4):449-53. PubMed ID: 23324055
    [No Abstract]   [Full Text] [Related]  

  • 8. Autophagic vacuolar pathology in desminopathies.
    Weihl CC; Iyadurai S; Baloh RH; Pittman SK; Schmidt RE; Lopate G; Pestronk A; Harms MB
    Neuromuscul Disord; 2015 Mar; 25(3):199-206. PubMed ID: 25557463
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autophagic vacuolar myopathy.
    Nishino I
    Semin Pediatr Neurol; 2006 Jun; 13(2):90-5. PubMed ID: 17027858
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked myopathy with excessive autophagy: a failure of self-eating.
    Dowling JJ; Moore SA; Kalimo H; Minassian BA
    Acta Neuropathol; 2015 Mar; 129(3):383-90. PubMed ID: 25644398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
    Moro F; Rubegni A; Pochiero F; Mero S; Procopio E; Baldacci J; Donati MA; Santorelli FM
    Neuromuscul Disord; 2019 Jan; 29(1):67-69. PubMed ID: 30553701
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel autophagic vacuolar myopathies: Phenotype and genotype features.
    Napolitano F; Terracciano C; Bruno G; De Blasiis P; Lombardi L; Gialluisi A; Gianfrancesco F; De Giovanni D; Tummolo A; Di Iorio G; Limongelli G; Esposito T; Melone MAB; Sampaolo S
    Neuropathol Appl Neurobiol; 2021 Aug; 47(5):664-678. PubMed ID: 33393119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Danon disease as a cause of autophagic vacuolar myopathy.
    Yang Z; Vatta M
    Congenit Heart Dis; 2007; 2(6):404-9. PubMed ID: 18377432
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Differential diagnosis of vacuolar myopathies in the NGS era.
    Mair D; Biskup S; Kress W; Abicht A; Brück W; Zechel S; Knop KC; Koenig FB; Tey S; Nikolin S; Eggermann K; Kurth I; Ferbert A; Weis J
    Brain Pathol; 2020 Sep; 30(5):877-896. PubMed ID: 32419263
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
    Rajeshwari M; Dhiman N; Chakrabarty B; Gulati S; Shamim U; Faruq M; Suri V; Sharma MC
    Neurol India; 2022; 70(4):1643-1648. PubMed ID: 36076674
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
    Kepron C; Blumenthal A; Chitayat D; Cutz E; Superti-Furga A; Keating S
    Pediatr Dev Pathol; 2009; 12(1):53-8. PubMed ID: 19243213
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
    Munteanu I; Kalimo H; Saraste A; Nishino I; Minassian BA
    Neuromuscul Disord; 2017 Feb; 27(2):185-187. PubMed ID: 27916343
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Altered
    Fernandes SA; Almeida CF; Souza LS; Lazar M; Onofre-Oliveira P; Yamamoto GL; Nogueira L; Tasaki LY; Cardoso RR; Pavanello RCM; Silva HCA; Ferrari MFR; Bigot A; Mouly V; Vainzof M
    Dis Model Mech; 2020 Jan; 13(2):. PubMed ID: 31826868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
    Hanna AD; Lee CS; Babcock L; Wang H; Recio J; Hamilton SL
    FASEB J; 2021 May; 35(5):e21349. PubMed ID: 33786938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Autophagic vacuolar myopathies: what we have learned from the differential diagnosis of vacuoles in muscle biopsy].
    Zámečník J; Dahmen RA
    Cesk Patol; 2013 Jan; 49(1):39-45. PubMed ID: 23432075
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.