Bertini E - Search Results

1

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Bello L, et al. Among authors: bertini e. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.

2

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P. Mirabella M, et al. Among authors: bertini e. Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342. Neurology. 1993. PMID: 8232953

3

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

Mirabella M, Galluzzi G, Manfredi G, Bertini E, Ricci E, De Leo R, Tonali P, Servidei S. Mirabella M, et al. Among authors: bertini e. Neurology. 1998 Aug;51(2):592-5. doi: 10.1212/wnl.51.2.592. Neurology. 1998. PMID: 9710043

4

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study.

Merlini L, Solari A, Vita G, Bertini E, Minetti C, Mongini T, Mazzoni E, Angelini C, Morandi L. Merlini L, et al. Among authors: bertini e. J Child Neurol. 2003 Aug;18(8):537-41. doi: 10.1177/08830738030180080501. J Child Neurol. 2003. PMID: 13677579 Clinical Trial.

5

Motor function-muscle strength relationship in spinal muscular atrophy.

Merlini L, Bertini E, Minetti C, Mongini T, Morandi L, Angelini C, Vita G. Merlini L, et al. Among authors: bertini e. Muscle Nerve. 2004 Apr;29(4):548-52. doi: 10.1002/mus.20018. Muscle Nerve. 2004. PMID: 15052620

6

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. D'Amico A, et al. Among authors: bertini e. Neurology. 2004 Jun 8;62(11):2138-9. doi: 10.1212/01.wnl.0000127698.88895.85. Neurology. 2004. PMID: 15184642 No abstract available.

7

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R. Guenther UP, et al. Among authors: bertini e. Hum Genet. 2004 Sep;115(4):319-26. doi: 10.1007/s00439-004-1156-0. Hum Genet. 2004. PMID: 15290238

8

Acute quadriplegic myopathy in a 16-month-old child.

Iodice F, Salzano M, Prosperi M, D' Amico A, Lauri A, Bertini E. Iodice F, et al. Among authors: bertini e. Paediatr Anaesth. 2005 Jul;15(7):611-5. doi: 10.1111/j.1460-9592.2005.01491.x. Paediatr Anaesth. 2005. PMID: 15960648

9

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. D'Amico A, et al. Among authors: bertini e. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006. Neuromuscul Disord. 2005. PMID: 15961312

10

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. van Reeuwijk J, et al. Among authors: bertini e. Hum Mutat. 2006 May;27(5):453-9. doi: 10.1002/humu.20313. Hum Mutat. 2006. PMID: 16575835

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