Rimoldi M - Search Results

1

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. Among authors: rimoldi m. Neurol Sci. 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. Neurol Sci. 2004. PMID: 15300460

2

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. Castellotti B, et al. Among authors: rimoldi m. Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5. Neurogenetics. 2011. PMID: 21465257

3

X-linked adrenoleukodystrophy: first report of the Italian Study Group.

Di Biase A, Salvati S, Avellino C, Cappa M, Bertini E, Moroni I, Rimoldi M, Uziel G. Di Biase A, et al. Among authors: rimoldi m. Ital J Neurol Sci. 1998 Oct;19(5):315-9. doi: 10.1007/BF00713859. Ital J Neurol Sci. 1998. PMID: 10933453

4

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Moroni I, et al. Among authors: rimoldi m. Neurol Sci. 2000 Apr;21(2):103-8. doi: 10.1007/s100720070104. Neurol Sci. 2000. PMID: 10938189

5

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M. Cotelli MS, et al. Among authors: rimoldi m. Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22. Neurol Sci. 2012. PMID: 22190129

6

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S. Gellera C, et al. Among authors: rimoldi m. Neurology. 1990 Mar;40(3 Pt 1):495-9. doi: 10.1212/wnl.40.3_part_1.495. Neurology. 1990. PMID: 2314594

7

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.

DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M. DiDonato S, et al. Among authors: rimoldi m. Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510. Ann Neurol. 1989. PMID: 2774489

8

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.

Uziel G, Cornelio F, Gellera C, Perego C, Rimoldi M, DiDonato S. Uziel G, et al. Among authors: rimoldi m. Ital J Neurol Sci. 1986 Feb;7(1):107-12. doi: 10.1007/BF02230427. Ital J Neurol Sci. 1986. PMID: 3957624

9

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G. Garavaglia B, et al. Among authors: rimoldi m. J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813. J Inherit Metab Dis. 1994. PMID: 7807937 No abstract available.

10

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: rimoldi m. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

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