17 results for author:"Malandrini A." in Literature citations
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| Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Duff R.M., Tay V., Hackman P., Ravenscroft G., McLean C., Kennedy P., Steinbach A., Schoffler W., van der Ven P.F., Furst D.O. et al. Am. J. Hum. Genet. 88:729-740(2011) · UniProtKB (1) · Mapped (2) |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Kruer M.C., Paisan-Ruiz C., Boddaert N., Yoon M.Y., Hama H., Gregory A., Malandrini A., Woltjer R.L., Munnich A., Gobin S. et al. |
| The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. Pollazzon M., Suominen T., Penttila S., Malandrini A., Carluccio M.A., Mondelli M., Marozza A., Federico A., Renieri A., Hackman P. et al. J. Neurol. 257:575-579(2010) · Mapped (13) |
| Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Denora P.S., Schlesinger D., Casali C., Kok F., Tessa A., Boukhris A., Azzedine H., Dotti M.T., Bruno C., Truchetto J. et al. |
| Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. Denora P.S., Muglia M., Casali C., Truchetto J., Silvestri G., Messina D., Boukrhis A., Magariello A., Modoni A., Masciullo M. et al. J. Neurol. Sci. 277:22-25(2009) · UniProtKB (1) · Mapped (5) |
| A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. Cardaioli E., Da Pozzo P., Gallus G.N., Malandrini A., Gambelli S., Gaudiano C., Malfatti E., Viscomi C., Zicari E., Berti G. et al. Neuromuscul. Disord. 17:681-683(2007) · Mapped (4) |
| Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease. Squillaro T., Cambi F., Ciacci G., Rossi S., Ulivelli M., Malandrini A., Mencarelli M.A., Mari F., Renieri A., Ariani F. J. Hum. Genet. 52:201-204(2007) · Mapped (4) |
| Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. Gambelli S., Malandrini A., Berti G., Gaudiano C., Zicari E., Brunori P., Perticoni G., Orrico A., Galli L., Sorrentino V. et al. Clin. Genet. 71:93-94(2007) · UniProtKB (1) |
| A new missense mutation in caveolin-3 gene causes rippling muscle disease. Dotti M.T., Malandrini A., Gambelli S., Salvadori C., De Stefano N., Federico A. J. Neurol. Sci. 243:61-64(2006) · UniProtKB (1) |
| Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Patrono C., Scarano V., Cricchi F., Melone M.A., Chiriaco M., Napolitano A., Malandrini A., De Michele G., Petrozzi L., Giraldi C. et al. Hum. Mutat. 25:506-506(2005) · Mapped (4) |
| Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Grieco G.S., Malandrini A., Comanducci G., Leuzzi V., Valoppi M., Tessa A., Palmeri S., Benedetti L., Pierallini A., Gambelli S. et al. Neurology 62:103-106(2004) · Mapped (1) |
| Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Palmeri S., Mari F., Meloni I., Malandrini A., Ariani F., Villanova M., Pompilio A., Schwarze U., Byers P.H., Renieri A. Clin. Genet. 63:510-515(2003) · UniProtKB (1) |
| Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. Siciliano G., Tessa A., Petrini S., Mancuso M., Bruno C., Grieco G.S., Malandrini A., DeFlorio L., Martini B., Federico A. et al. Neuromuscul. Disord. 13:162-165(2003) · Mapped (5) |
| McLeod neuroacanthocytosis: genotype and phenotype. Danek A., Rubio J.P., Rampoldi L., Ho M., Dobson-Stone C., Tison F., Symmans W.A., Oechsner M., Kalckreuth W., Watt J.M. et al. Ann. Neurol. 50:755-764(2001) · UniProtKB (1) |
| PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Malandrini A., Mari F., Palmeri S., Gambelli S., Berti G., Bruttini M., Bardelli A.M., Williamson K., van Heyningen V., Renieri A. Clin. Genet. 60:151-154(2001) · UniProtKB (1) |
| A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Rampoldi L., Dobson-Stone C., Rubio J., Danek A., Chalmers R., Wood N.W., Verellen C., Ferrer X., Malandrini A., Fabrizi G.M. et al. |
| Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B., Jonsson J., Sorrentino V., Renieri A. Genomics 55:335-340(1999) · UniProtKB (1) |