Zara F - Search Results

1

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682

2

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: zara f. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.

3

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M. Broccolini A, et al. Among authors: zara f. Hum Mutat. 2004 Jun;23(6):632. doi: 10.1002/humu.9252. Hum Mutat. 2004. PMID: 15146476

4

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

Minetti C, Gattorno M, Repetto S, Gregorio A, Pedemonte M, Assereto S, Zara F, Bruno C, Martini A. Minetti C, et al. Among authors: zara f. Biochem Biophys Res Commun. 2005 Jul 29;333(2):540-3. doi: 10.1016/j.bbrc.2005.05.146. Biochem Biophys Res Commun. 2005. PMID: 15950936

5

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.

Assereto S, Stringara S, Sotgia F, Bonuccelli G, Broccolini A, Pedemonte M, Traverso M, Biancheri R, Zara F, Bruno C, Lisanti MP, Minetti C. Assereto S, et al. Among authors: zara f. Am J Physiol Cell Physiol. 2006 Feb;290(2):C577-82. doi: 10.1152/ajpcell.00434.2005. Epub 2005 Sep 28. Am J Physiol Cell Physiol. 2006. PMID: 16192300 Free article.

6

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.

Traverso M, Malnati M, Minetti C, Regis S, Tedeschi S, Pedemonte M, Bruno C, Biassoni R, Zara F. Traverso M, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Jan 6;339(1):145-50. doi: 10.1016/j.bbrc.2005.11.006. Epub 2005 Nov 9. Biochem Biophys Res Commun. 2006. PMID: 16297882

7

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

Striano P, Madia F, Minetti C, Striano S, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2005 Dec;46(12):1993-5. doi: 10.1111/j.1528-1167.2005.00346.x. Epilepsia. 2005. PMID: 16393167 Free article.

8

A novel SCN2A mutation in family with benign familial infantile seizures.

Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2006 Jan;47(1):218-20. doi: 10.1111/j.1528-1167.2006.00392.x. Epilepsia. 2006. PMID: 16417554 Free article.

9

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863

10

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

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