Mariotti C - Search Results

1

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: mariotti c. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.

2

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. Tiranti V, et al. Among authors: mariotti c. Hum Mol Genet. 1995 Aug;4(8):1421-7. doi: 10.1093/hmg/4.8.1421. Hum Mol Genet. 1995. PMID: 7581383

3

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.

Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C. Gellera C, et al. Among authors: mariotti c. Neuromuscul Disord. 2001 May;11(4):404-10. doi: 10.1016/s0960-8966(00)00215-7. Neuromuscul Disord. 2001. PMID: 11369193

4

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.

Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S. Mariotti C, et al. Neurology. 2001 Oct 23;57(8):1502-4. doi: 10.1212/wnl.57.8.1502. Neurology. 2001. PMID: 11673601

5

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.

Di Donato S, Gellera C, Mariotti C. Di Donato S, et al. Among authors: mariotti c. Neurol Sci. 2001 Jun;22(3):219-28. doi: 10.1007/s100720100017. Neurol Sci. 2001. PMID: 11731874 Review.

6

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N. Angelini L, et al. Among authors: mariotti c. Mov Disord. 2002 May;17(3):612-4. doi: 10.1002/mds.10026. Mov Disord. 2002. PMID: 12112220

7

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Mariotti C, et al. Neurol Sci. 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. Neurol Sci. 2004. PMID: 15300460

8

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Stevanin G, et al. Among authors: mariotti c. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13. Neurogenetics. 2006. PMID: 16699786

9

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: mariotti c. Hum Genet. 2006 Sep;120(2):285-92. doi: 10.1007/s00439-006-0221-2. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847693

10

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F. Gellera C, et al. Among authors: mariotti c. Neurogenetics. 2007 Nov;8(4):289-99. doi: 10.1007/s10048-007-0101-5. Epub 2007 Aug 17. Neurogenetics. 2007. PMID: 17703324

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