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Journal Abstract Search

384 related items for PubMed ID: 14506069

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  • 24. Interfamilial phenotypic heterogeneity in SMARD1.
    Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E.
    Neuromuscul Disord; 2009 Mar; 19(3):193-5. PubMed ID: 19157874
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  • 30. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
    Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.
    Brain; 2008 Nov; 131(Pt 11):3051-61. PubMed ID: 18812441
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  • 31. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
    Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, Grew S, Ryan MM, Funalot B.
    J Neuropathol Exp Neurol; 2008 Nov; 67(11):1097-102. PubMed ID: 18957892
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  • 32. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.
    Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G, Lyon G.
    Am J Med Genet; 1989 Jul; 33(3):328-35. PubMed ID: 2801766
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  • 33. One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
    Litvinenko I, Kirov AV, Georgieva R, Todorov T, Malinova Z, Mitev V, Todorova A.
    J Child Neurol; 2014 Jun; 29(6):799-802. PubMed ID: 23449687
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  • 34. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
    San Millan B, Fernandez JM, Navarro C, Reparaz A, Teijeira S.
    Clin Neuropathol; 2016 Jun; 35(2):58-65. PubMed ID: 26709713
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  • 35. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
    Rudnik-Schöneborn S, Goebel HH, Schlote W, Molaian S, Omran H, Ketelsen U, Korinthenberg R, Wenzel D, Lauffer H, Kreiss-Nachtsheim M, Wirth B, Zerres K.
    Neurology; 2003 Mar 25; 60(6):983-7. PubMed ID: 12654964
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  • 36. Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ.
    Krieger F, Elflein N, Ruiz R, Guerra J, Serrano AL, Asan E, Tabares L, Jablonka S.
    Neurobiol Dis; 2013 Jun 25; 54():169-82. PubMed ID: 23295857
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  • 37. A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
    Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E.
    Eur J Paediatr Neurol; 2010 May 25; 14(3):253-60. PubMed ID: 19879173
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  • 38. Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
    Baughn J, Gershan W, Rao A.
    Pediatr Pulmonol; 2011 Aug 25; 46(8):817-9. PubMed ID: 21360834
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  • 39. The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.
    Leśniak A, Glińska M, Patalan M, Ostrowska I, Świrska-Sobolewska M, Giżewska-Kacprzak K, Kotkowiak A, Leśniak A, Walczak M, Śmigiel R, Giżewska M.
    Genes (Basel); 2024 Jul 30; 15(8):. PubMed ID: 39202358
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  • 40. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
    Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.
    Neuromuscul Disord; 2011 May 30; 21(5):353-5. PubMed ID: 21353777
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