Schiaffino MC - Search Results

1

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Bertamino M, Severino M, Schiaffino MC, Garrè ML, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M. Bertamino M, et al. Among authors: schiaffino mc. Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239063 Review.

2

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino MC, Fonda C, Zammarchi E, Tortori-Donati P. Rossi A, et al. Among authors: schiaffino mc. AJNR Am J Neuroradiol. 2001 Mar;22(3):554-63. AJNR Am J Neuroradiol. 2001. PMID: 11237984 Free PMC article.

3

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

Biancheri R, Cerone R, Schiaffino MC, Caruso U, Veneselli E, Perrone MV, Rossi A, Gatti R. Biancheri R, et al. Among authors: schiaffino mc. Neuropediatrics. 2001 Feb;32(1):14-22. doi: 10.1055/s-2001-12217. Neuropediatrics. 2001. PMID: 11315197

4

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E. Biancheri R, et al. Among authors: schiaffino mc. Epilepsia. 2002 Jun;43(6):616-22. doi: 10.1046/j.1528-1157.2002.24001.x. Epilepsia. 2002. PMID: 12060021 Free article.

5

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R. Mancardi MM, et al. Among authors: schiaffino mc. Epilepsia. 2007 Jun;48(6):1211-3. doi: 10.1111/j.1528-1167.2007.01148.x. Epilepsia. 2007. PMID: 17553121 Free article.

6

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Gimelli S, Capra V, Di Rocco M, Leoni M, Mirabelli-Badenier M, Schiaffino MC, Fiorio P, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: schiaffino mc. Mol Cytogenet. 2014 Aug 13;7:54. doi: 10.1186/s13039-014-0054-y. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478008 Free PMC article.

7

Long term follow-up in two siblings with Sengers syndrome: Case report.

Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: schiaffino mc. Ital J Pediatr. 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. Ital J Pediatr. 2022. PMID: 36253788 Free PMC article.

8

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Alpigiani MG, Salvati P, Schiaffino MC, Occella C, Castiglia D, Covaciu C, Lorini R. Alpigiani MG, et al. Among authors: schiaffino mc. Pediatr Dermatol. 2012 Jul-Aug;29(4):521-2. doi: 10.1111/j.1525-1470.2011.01525.x. Epub 2011 Jun 22. Pediatr Dermatol. 2012. PMID: 21692842

9

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E. Schiaffino MC, et al. Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 16086185

10

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: schiaffino mc. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154

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