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 *

159 related articles for article (PubMed ID: 2324771)

  • 1. Limb girdle syndromes. Clinical, morphological and electrophysiological studies.
    Panegyres PK; Mastaglia FL; Kakulas BA
    J Neurol Sci; 1990 Feb; 95(2):201-18. PubMed ID: 2324771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H; Xu G; Lin F; Jin M; Cai N; Qiu L; Ye Z; Wang L; Lin M; Wang N
    Neuromuscul Disord; 2020 Feb; 30(2):137-143. PubMed ID: 32005491
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
    Sun Y; Chen H; Lu Y; Duo J; Lei L; OuYang Y; Hao Y; Da Y; Shen XM
    J Neurol; 2019 Feb; 266(2):498-506. PubMed ID: 30604053
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
    Kley RA; Hellenbroich Y; van der Ven PF; Fürst DO; Huebner A; Bruchertseifer V; Peters SA; Heyer CM; Kirschner J; Schröder R; Fischer D; Müller K; Tolksdorf K; Eger K; Germing A; Brodherr T; Reum C; Walter MC; Lochmüller H; Ketelsen UP; Vorgerd M
    Brain; 2007 Dec; 130(Pt 12):3250-64. PubMed ID: 18055494
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Limb girdle muscular dystrophy: reappraisal of a rejected entity.
    van der Kooi AJ; de Visser M; Barth PG
    Clin Neurol Neurosurg; 1994 Aug; 96(3):209-18. PubMed ID: 7988088
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy.
    Calore EE; Cavaliere MJ; Wakamatsu A; Perez NM; Maeda MY; Russo DH
    Pathologica; 1994 Dec; 86(6):649-51. PubMed ID: 7617396
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Update on the genetics of limb girdle muscular dystrophy.
    Mitsuhashi S; Kang PB
    Semin Pediatr Neurol; 2012 Dec; 19(4):211-8. PubMed ID: 23245554
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
    Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
    Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.
    van der Kooi AJ; Ledderhof TM; de Voogt WG; Res CJ; Bouwsma G; Troost D; Busch HF; Becker AE; de Visser M
    Ann Neurol; 1996 May; 39(5):636-42. PubMed ID: 8619549
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.
    Kojima Y; Noto YI; Takewaki D; Tokuda N; Shiga K; Hamano A; Mizuta I; Muranishi M; Kasai T; Nakagawa M; Mizuno T
    Intern Med; 2017 Sep; 56(17):2347-2351. PubMed ID: 28794355
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.
    Sandell S; Huovinen S; Sarparanta J; Luque H; Raheem O; Haapasalo H; Hackman P; Udd B
    J Neurol Neurosurg Psychiatry; 2010 Aug; 81(8):834-9. PubMed ID: 20682716
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Sarcoglycanopathies: a clinico-pathological study.
    Meena AK; Sreenivas D; Sundaram C; Rajasekhar R; Sita JS; Borgohain R; Suvarna A; Kaul S
    Neurol India; 2007; 55(2):117-21. PubMed ID: 17558114
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
    van der Kooi AJ; Ten Dam L; Frankhuizen WS; Straathof CS; van Doorn PA; de Visser M; Ginjaar IB
    Neuromuscul Disord; 2013 Jun; 23(6):456-60. PubMed ID: 23607914
    [TBL] [Abstract][Full Text] [Related]  

  • 17. DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
    Suarez-Cedeno G; Winder T; Milone M
    Muscle Nerve; 2014 Apr; 49(4):607-10. PubMed ID: 24170373
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A pedigree of autosomal dominant limb-girdle myopathy with rimmed vacuole formation].
    Kishibayashi J; Sunohara N; Saito Y
    Rinsho Shinkeigaku; 1997 Jul; 37(7):603-10. PubMed ID: 9396357
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N; Lukacs Z; Vinge L; Madsen KL; Husu E; Hansen RS; Duno M; Andersen H; Laub M; Vissing J
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
    Pál E; Zima J; Hadzsiev K; Ito YA; Hartley T; ; Boycott KM; Melegh B
    Eur J Med Genet; 2019 Jul; 62(7):103662. PubMed ID: 31071488
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.