Zara F - Search Results

1

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R. Traverso M, et al. Among authors: zara f. Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30. Eur J Paediatr Neurol. 2013. PMID: 22749724

2

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

3

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

4

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.

5

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

6

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.

7

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

8

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: zara f. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

9

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. Among authors: zara f. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.

10

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: zara f. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513

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