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 *

145 related articles for article (PubMed ID: 34633329)

  • 21. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
    Polavarapu K; Sunitha B; Töpf A; Preethish-Kumar V; Thompson R; Vengalil S; Nashi S; Bardhan M; Sanka SB; Huddar A; Unnikrishnan G; Arunachal G; Girija MS; Porter A; Azuma Y; Lorenzoni PJ; Baskar D; Anjanappa RM; Keertipriya M; Padmanabh H; Harikrishna GV; Laurie S; Matalonga L; Horvath R; Nalini A; Lochmüller H
    Brain; 2024 Jan; 147(1):281-296. PubMed ID: 37721175
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Four Individuals with a Homozygous Mutation in Exon 1f of the
    Mroczek M; Durmus H; Töpf A; Parman Y; Straub V
    Genes (Basel); 2020 Jun; 11(7):. PubMed ID: 32605089
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
    Rodríguez Cruz PM; Cossins J; Estephan EP; Munell F; Selby K; Hirano M; Maroofin R; Mehrjardi MYV; Chow G; Carr A; Manzur A; Robb S; Munot P; Wei Liu W; Banka S; Fraser H; De Goede C; Zanoteli E; Conti Reed U; Sage A; Gratacos M; Macaya A; Dusl M; Senderek J; Töpf A; Hofer M; Knight R; Ramdas S; Jayawant S; Lochmüller H; Palace J; Beeson D
    Brain; 2019 Jun; 142(6):1547-1560. PubMed ID: 31081514
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mobility shift of beta-dystroglycan as a marker of
    Sarkozy A; Torelli S; Mein R; Henderson M; Phadke R; Feng L; Sewry C; Ala P; Yau M; Bertoli M; Willis T; Hammans S; Manzur A; Sframeli M; Norwood F; Rakowicz W; Radunovic A; Vaidya SS; Parton M; Walker M; Marino S; Offiah C; Farrugia ME; Mamutse G; Marini-Bettolo C; Wraige E; Beeson D; Lochmüller H; Straub V; Bushby K; Barresi R; Muntoni F
    J Neurol Neurosurg Psychiatry; 2018 Jul; 89(7):762-768. PubMed ID: 29437916
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
    Tsao CY
    Pediatr Neurol; 2016 Jan; 54():85-7. PubMed ID: 26552645
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
    Sun L; Shen D; Xiong T; Zhou Z; Lu X; Cui F
    Bosn J Basic Med Sci; 2020 May; 20(2):275-280. PubMed ID: 30684953
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.
    Zhang Y; Dai Y; Han JN; Chen ZH; Ling L; Pu CQ; Cui LY; Huang XS
    Chin Med J (Engl); 2017 Oct; 130(19):2279-2282. PubMed ID: 28937031
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
    Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
    Luan X; Tian W; Cao L
    Clin Neurol Neurosurg; 2016 Nov; 150():41-45. PubMed ID: 27588369
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
    Bobadilla-Quesada EJ; Natera-de Benito D; Carrera-García L; Ortez C; Exposito-Escudero J; Jimenez-Mallebrera C; Jou C; Codina A; Corbera J; Moya O; Saez V; Gonzalez-Quereda L; Gallano P; Colomer J; Cuadras D; Medina J; Yoldi ME; Nascimento A
    Neuromuscul Disord; 2020 Sep; 30(9):719-726. PubMed ID: 32819792
    [TBL] [Abstract][Full Text] [Related]  

  • 32. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
    Løkken N; Born AP; Duno M; Vissing J
    Muscle Nerve; 2015 Oct; 52(4):547-53. PubMed ID: 25663498
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Expanding the phenotype of GMPPB mutations.
    Cabrera-Serrano M; Ghaoui R; Ravenscroft G; Johnsen RD; Davis MR; Corbett A; Reddel S; Sue CM; Liang C; Waddell LB; Kaur S; Lek M; North KN; MacArthur DG; Lamont PJ; Clarke NF; Laing NG
    Brain; 2015 Apr; 138(Pt 4):836-44. PubMed ID: 25681410
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical features of the DOK7 neuromuscular junction synaptopathy.
    Palace J; Lashley D; Newsom-Davis J; Cossins J; Maxwell S; Kennett R; Jayawant S; Yamanashi Y; Beeson D
    Brain; 2007 Jun; 130(Pt 6):1507-15. PubMed ID: 17452375
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Congenital myasthenic syndrome caused by mutations in DPAGT.
    Klein A; Robb S; Rushing E; Liu WW; Belaya K; Beeson D
    Neuromuscul Disord; 2015 Mar; 25(3):253-6. PubMed ID: 25500013
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
    Giacomucci G; Monforte M; Diaz-Manera J; Mul K; Fernandez Torrón R; Maggi L; Marini Bettolo C; Dahlqvist JR; Haberlova J; Camaño P; Gros M; Tartaglione T; Cristiano L; Gerevini S; Calandra P; Deidda G; Giardina E; Sacconi S; Straub V; Vissing J; Van Engelen B; Ricci E; Tasca G
    Eur J Neurol; 2020 Dec; 27(12):2604-2615. PubMed ID: 32697863
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the
    Xie Z; Xiao J; Zheng Y; Wang Z; Yuan Y
    Biomed Res Int; 2018; 2018():3710814. PubMed ID: 30003095
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P; Bonati U; Fischmann A; Schneider J; Frank S; Morris-Rosendahl DJ; Dumea A; Heinimann K; Fischer D
    Neuromuscul Disord; 2014 Apr; 24(4):321-4. PubMed ID: 24556424
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
    Perry L; Stimpson G; Singh L; Morrow JM; Shah S; Baranello G; Muntoni F; Sarkozy A
    Ann Clin Transl Neurol; 2023 Jul; 10(7):1219-1229. PubMed ID: 37265148
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.