Dirocco M - Search Results

1

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Spinazzola A, et al. Among authors: dirocco m. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27. J Inherit Metab Dis. 2009. PMID: 19125351

2

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia AR, Borrone C, Gibson KM. Di Rocco M, et al. J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613. J Inherit Metab Dis. 1999. PMID: 10399091

3

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M. Manara R, et al. J Inherit Metab Dis. 2011 Jun;34(3):763-80. doi: 10.1007/s10545-011-9317-5. Epub 2011 Apr 5. J Inherit Metab Dis. 2011. PMID: 21465231

4

Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.

Di Rocco M, Hennet T, Grubenmann CE, Pagliardini S, Allegri AE, Frank CG, Aebi M, Vignola S, Jaeken J. Di Rocco M, et al. J Inherit Metab Dis. 2005;28(6):1162-4. doi: 10.1007/s10545-005-0137-3. J Inherit Metab Dis. 2005. PMID: 16435218

5

Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.

Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB. Di Rocco M, et al. J Inherit Metab Dis. 1994;17(1):112-4. doi: 10.1007/BF00735407. J Inherit Metab Dis. 1994. PMID: 8051916 No abstract available.

6

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.

Begliuomini C, Magli G, Di Rocco M, Santorelli FM, Cassandrini D, Nesti C, Deodato F, Diodato D, Casellato S, Simula DM, Dessì V, Eusebi A, Carta A, Sotgiu S. Begliuomini C, et al. BMC Med Genet. 2019 May 7;20(1):77. doi: 10.1186/s12881-019-0798-7. BMC Med Genet. 2019. PMID: 31064326 Free PMC article.

7

Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A. Di Rocco M, et al. J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977. J Inherit Metab Dis. 2000. PMID: 10896302 No abstract available.

8

Allogeneic hematopoietic cell transplantation in Farber disease.

Ehlert K, Levade T, Di Rocco M, Lanino E, Albert MH, Führer M, Jarisch A, Güngör T, Ayuk F, Vormoor J. Ehlert K, et al. J Inherit Metab Dis. 2019 Mar;42(2):286-294. doi: 10.1002/jimd.12043. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30815900

9

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.

Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E, Burlina AB, Dionisi Vici C, Di Rocco M, Furlan F, Torcoletti M, Papadia F, Donati A, Benigno V, Andria G. Melis D, et al. Clin Endocrinol (Oxf). 2005 Jul;63(1):19-25. doi: 10.1111/j.1365-2265.2005.02292.x. Clin Endocrinol (Oxf). 2005. PMID: 15963056

10

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, Cassandrini D, Madeo A, Doccini S, Pedemonte M, Rossi A, D'Amore F, Donati MA, Di Rocco M, Santorelli FM, Nesti C. Tolomeo D, et al. J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6. J Neurol Sci. 2019. PMID: 30776730

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