Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Public Health Genomics and Precision Health Knowledge Base (v6.0)

Note: Javascript is disabled or is not supported by your browser. For this reason, some items on this page will be unavailable. For more information about this message, please visit this page: About CDC.gov.

HuGE Navigator|HuGE Literature Finder|PHGKB

HuGE Literature Finder

Records 1-8

Query Trace: Genetic Diseases, Inborn and CAPN3[orginal query]

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & nerve 2015 Oct 52 (4): 547-53. Løkken Nicoline, Born Alfred Peter, Duno Morten, Vissing Jo Similar articles in PubMed
The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population. Genetic testing and molecular biomarkers 2015 Oct . Dorobek Ma?gorzata, Ryniewicz Barbara, Kabzi?ska Dagmara, Fidzia?ska Anna, Styczy?ska Maria, Hausmanowa-Petrusewicz Ire Similar articles in PubMed
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len Similar articles in PubMed
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. Journal of medical genetics 2005 Sep 42 (9): 686-93. Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia V M, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni A C, Fulizio L, Broccolini A, Canki-Klain N, Comi L I, Nigro G, Angelini C, Nigro Similar articles in PubMed
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain : a journal of neurology 2005 Apr 128 (Pt 4): 732-42. Sáenz A, Leturcq F, Cobo A M, Poza J J, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan J C, Urtizberea J A, Martí-Massó J F, López de Munain Similar articles in PubMed
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscular disorders : NMD 2005 Mar 15 (3): 218-24. Fanin Marina, Nascimbeni Anna Chiara, Fulizio Luigi, Angelini Corra Similar articles in PubMed
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Human mutation 2004 Jul 24 (1): 52-62. Fanin M, Fulizio L, Nascimbeni A C, Spinazzi M, Piluso G, Ventriglia V M, Ruzza G, Siciliano G, Trevisan C P, Politano L, Nigro V, Angelini Similar articles in PubMed
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. American journal of medical genetics. Part A 2004 Mar 125A (2): 152-6. Canki-Klain Nina, Milic Astrid, Kovac Biserka, Trlaja Anuska, Grgicevic Damir, Zurak Niko, Fardeau Michel, Leturcq France, Kaplan Jean-Claude, Urtizberea J Andoni, Politano Luisa, Piluso Giulio, Feingold Jos Similar articles in PubMed

File Formats Help:

How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?

Page last reviewed:Jul 30, 2019
Page last updated:Nov 21, 2019
Content source:

TOP