12 results for author:"Fichera M." in Literature citations
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| Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Talkowski M.E., Mullegama S.V., Rosenfeld J.A., van Bon B.W., Shen Y., Repnikova E.A., Gastier-Foster J., Thrush D.L., Kathiresan S., Ruderfer D.M. et al. Am. J. Hum. Genet. 89:551-563(2011) · Mapped (3) |
| Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome. Barresi V., Ragusa A., Fichera M., Musso N., Castiglia L., Rappazzo G., Travali S., Mattina T., Romano C., Cocchi G. et al. |
| Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. Scuderi C., Fichera M., Calabrese G., Elia M., Amato C., Savio M., Borgione E., Vitello G.A., Musumeci S.A. J. Neurol. Neurosurg. Psychiatr. 80:440-443(2009) · Mapped (4) |
| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Helbig I., Mefford H.C., Sharp A.J., Guipponi M., Fichera M., Franke A., Muhle H., de Kovel C., Baker C., von Spiczak S. et al. Nat. Genet. 41:160-162(2009) · Mapped (13) |
| The molecular landscape of ASPM mutations in primary microcephaly. Nicholas A.K., Swanson E.A., Cox J.J., Karbani G., Malik S., Springell K., Hampshire D., Ahmed M., Bond J., Di Benedetto D. et al. J. Med. Genet. 46:249-253(2009) · Mapped (6) |
| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Elia M., Falco M., Ferri R., Spalletta A., Bottitta M., Calabrese G., Carotenuto M., Musumeci S.A., Lo Giudice M., Fichera M. Neurology 71:997-999(2008) · UniProtKB (1) |
| A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M. et al. Nat. Genet. 38:999-1001(2006) · Mapped (15) |
| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Lo Giudice M., Neri M., Falco M., Sturnio M., Calzolari E., Di Benedetto D., Fichera M. Arch. Neurol. 63:284-287(2006) · UniProtKB (1) |
| Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. Falco M., Scuderi C., Musumeci S., Sturnio M., Neri M., Bigoni S., Caniatti L., Fichera M. Neuromuscul. Disord. 14:750-753(2004) · UniProtKB (1) · Mapped (3) |
| Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Fichera M., Lo Giudice M., Falco M., Sturnio M., Amata S., Calabrese O., Bigoni S., Calzolari E., Neri M. |
| New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Fichera M., Romano C., Castiglia L., Failla P., Ruberto C., Amata S., Greco D., Cardoso C., Fontes M., Ragusa A. Hum. Mutat. 12:214-214(1998) · UniProtKB (1) |
| Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Villard L., Bonino M.-C., Abidi F., Ragusa A., Belougne J., Lossi A.-M., Seaver L., Bonnefont J.-P., Romano C., Fichera M. et al. J. Med. Genet. 36:183-186(1999) · UniProtKB (1) |