Federico A - Search Results

1

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

Battisti C, Loudianos G, Rufa A, Dotti MT, Sangiorgi S, Dessì V, Lovicu M, Pirastu M, Federico A. Battisti C, et al. Among authors: federico a. Am J Med Genet. 1999 Jul 16;85(2):175-8. doi: 10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10406672

2

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A. Battisti C, et al. Among authors: federico a. Am J Med Genet. 1998 Jan 6;75(1):35-9. doi: 10.1002/(sici)1096-8628(19980106)75:1<35::aid-ajmg8>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9450854

3

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Battisti C, Dotti MT, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A. Battisti C, et al. Among authors: federico a. Neurol Sci. 2004 Apr;25(1):18-20. doi: 10.1007/s10072-004-0220-z. Neurol Sci. 2004. PMID: 15060811

4

Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations.

Mangano L, Palmeri S, Dotti MT, Moschini F, Federico A. Mangano L, et al. Among authors: federico a. Am J Med Genet. 1989 Jan;32(1):67-71. doi: 10.1002/ajmg.1320320115. Am J Med Genet. 1989. PMID: 2705485

5

Plasma levels of vitamin E in Parkinson's disease.

Federico A, Battisti C, Formichi P, Dotti MT. Federico A, et al. J Neural Transm Suppl. 1995;45:267-70. J Neural Transm Suppl. 1995. PMID: 8748634

6

Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy.

Battisti C, Dotti MT, Formichi P, Bonuccelli U, Malandrini A, Carrai M, Tripodi SA, Federico A. Battisti C, et al. Among authors: federico a. J Submicrosc Cytol Pathol. 1996 Jul;28(3):339-44. J Submicrosc Cytol Pathol. 1996. PMID: 8765578

7

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A. Orrico A, et al. Among authors: federico a. Am J Med Genet. 1998 Jul 24;78(4):341-4. Am J Med Genet. 1998. PMID: 9714436

8

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.

Dotti MT, Federico A, Garuti R, Calandra S. Dotti MT, et al. Among authors: federico a. Mov Disord. 2000 Sep;15(5):1017-9. doi: 10.1002/1531-8257(200009)15:5<1017::aid-mds1043>3.0.co;2-f. Mov Disord. 2000. PMID: 11009219 No abstract available.

9

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

Battisti C, Bonaglia MC, Giglio S, Anichini C, Pucci L, Dotti MT, Zuffardi O, Federico A. Battisti C, et al. Among authors: federico a. Am J Med Genet A. 2003 Mar 15;117A(3):207-11. doi: 10.1002/ajmg.a.10149. Am J Med Genet A. 2003. PMID: 12599183

10

Retinochoroidal atrophy in two adult patients with Angelman syndrome.

Rufa A, Dotti MT, Orrico A, Battisti C, Carletto F, Federico A. Rufa A, et al. Among authors: federico a. Am J Med Genet A. 2003 Oct 1;122A(2):155-8. doi: 10.1002/ajmg.a.20217. Am J Med Genet A. 2003. PMID: 12955768

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