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 *

124 related articles for article (PubMed ID: 10838253)

  • 1. Minicore myopathy in children: a clinical and histopathological study of 19 cases.
    Jungbluth H; Sewry C; Brown SC; Manzur AY; Mercuri E; Bushby K; Rowe P; Johnson MA; Hughes I; Kelsey A; Dubowitz V; Muntoni F
    Neuromuscul Disord; 2000 Jun; 10(4-5):264-73. PubMed ID: 10838253
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
    Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F
    Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
    Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
    J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multi-minicore myopathy: a clinical and histopathological study of 17 cases.
    Nadaj-Pakleza A; Fidziańska A; Ryniewicz B; Kostera-Pruszczyk A; Ferreiro A; Kwieciński H; Kamińska A
    Folia Neuropathol; 2007; 45(2):56-65. PubMed ID: 17594595
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
    Lossos A; Baala L; Soffer D; Averbuch-Heller L; Dotan S; Munnich A; Lyonnet S; Gomori JM; Genem A; Neufeld M; Abramsky O; Zlotogora J; Argov Z
    Brain; 2005 Jan; 128(Pt 1):42-51. PubMed ID: 15548556
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
    Ferreiro A; Monnier N; Romero NB; Leroy JP; Bönnemann C; Haenggeli CA; Straub V; Voss WD; Nivoche Y; Jungbluth H; Lemainque A; Voit T; Lunardi J; Fardeau M; Guicheney P
    Ann Neurol; 2002 Jun; 51(6):750-9. PubMed ID: 12112081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
    Cullup T; Lamont PJ; Cirak S; Damian MS; Wallefeld W; Gooding R; Tan SV; Sheehan J; Muntoni F; Abbs S; Sewry CA; Dubowitz V; Laing NG; Jungbluth H
    Neuromuscul Disord; 2012 Dec; 22(12):1096-104. PubMed ID: 22784669
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Centronuclear myopathy with autosomal dominant inheritance(author's transl)].
    Mortier W; Michaelis E; Becker J; Gerhard L
    Humangenetik; 1975; 27(3):199-215. PubMed ID: 1150240
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multi-minicore disease revisited.
    Nucci A; Queiroz LS; Zambelli HJ; Martins Filho J
    Arq Neuropsiquiatr; 2004 Dec; 62(4):935-9. PubMed ID: 15608948
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.
    van der Sluijs BM; ter Laak HJ; Scheffer H; van der Maarel SM; van Engelen BG
    J Neurol Neurosurg Psychiatry; 2004 Oct; 75(10):1499-501. PubMed ID: 15377709
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
    Bitoun M; Bevilacqua JA; Prudhon B; Maugenre S; Taratuto AL; Monges S; Lubieniecki F; Cances C; Uro-Coste E; Mayer M; Fardeau M; Romero NB; Guicheney P
    Ann Neurol; 2007 Dec; 62(6):666-70. PubMed ID: 17932957
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
    Ferreiro A; Estournet B; Chateau D; Romero NB; Laroche C; Odent S; Toutain A; Cabello A; Fontan D; dos Santos HG; Haenggeli CA; Bertini E; Urtizberea JA; Guicheney P; Fardeau M
    Ann Neurol; 2000 Nov; 48(5):745-57. PubMed ID: 11079538
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.
    Lu H; Luan X; Yuan Y; Dong M; Sun W; Yan C
    Neuropathology; 2008 Dec; 28(6):599-603. PubMed ID: 18503509
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Minicore myopathy with dominant inheritance.
    Paljärvi L; Kalimo H; Lang H; Savontaus ML; Sonninen V
    J Neurol Sci; 1987 Jan; 77(1):11-22. PubMed ID: 3806134
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
    Ohlsson M; Hedberg C; Brådvik B; Lindberg C; Tajsharghi H; Danielsson O; Melberg A; Udd B; Martinsson T; Oldfors A
    Brain; 2012 Jun; 135(Pt 6):1682-94. PubMed ID: 22577218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Multi-minicore disease: a report of 5 patients from Kuwait.
    Al-Jumah ES; Habeeb YK; Al-Bloushi MA; Moosa A
    Med Princ Pract; 2005; 14(5):349-53. PubMed ID: 16103702
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
    Grogan PM; Tanner SM; Ørstavik KH; Knudsen GP; Saperstein DS; Vogel H; Barohn RJ; Herbelin LL; McVey AL; Katz JS
    Neurology; 2005 May; 64(9):1638-40. PubMed ID: 15883335
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.
    Zanoteli E; Oliveira AS; Schmidt B; Gabbai AA
    J Neurol Sci; 1998 Jun; 158(1):76-82. PubMed ID: 9667782
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A family with early onset myopathy caused by MEGF10 gene defect and literature review].
    Lin YF; Wu XY; Yang L; Cheng GQ; Huang Y; Zhuang DY
    Zhonghua Er Ke Za Zhi; 2023 Mar; 61(3):261-265. PubMed ID: 36849355
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.