Minetti C - Search Results

1

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: minetti c. 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.

2

Refractory, life-threatening status epilepticus in a 3-year-old girl.

Striano P, Striano S, Minetti C, Zara F. Striano P, et al. Among authors: minetti c. Lancet Neurol. 2008 Mar;7(3):278-84. doi: 10.1016/S1474-4422(08)70043-7. Lancet Neurol. 2008. PMID: 18275929 No abstract available.

3

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: minetti c. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

4

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. Among authors: minetti c. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332

5

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Striano P, Zara F, Striano S, Minetti C. Striano P, et al. Among authors: minetti c. Brain. 2013 Oct;136(Pt 10):e253. doi: 10.1093/brain/awt140. Epub 2013 Jun 25. Brain. 2013. PMID: 23803304 No abstract available.

6

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Among authors: minetti c. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689

7

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.

Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. Madia F, et al. Among authors: minetti c. Neurology. 2006 Oct 10;67(7):1230-5. doi: 10.1212/01.wnl.0000238513.70878.54. Neurology. 2006. PMID: 17030758

8

Phenotypic characterization of hypomyelination and congenital cataract.

Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: minetti c. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097

9

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S, Stringara S, Minetti C, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: minetti c. J Child Neurol. 2006 Nov;21(11):983-5. doi: 10.1177/08830738060210111001. J Child Neurol. 2006. PMID: 17092469

10

Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study.

Striano P, Zara F, Minetti C. Striano P, et al. Among authors: minetti c. Neurology. 2010 Jul 27;75(4):377-8; author reply 378. doi: 10.1212/WNL.0b013e3181e79389. Neurology. 2010. PMID: 20660871 No abstract available.

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