Mirabella M - Search Results

1

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Ricci E, et al. Among authors: mirabella m. Ann Neurol. 1999 Jun;45(6):751-7. doi: 10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m. Ann Neurol. 1999. PMID: 10360767

2

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli M, Di Muzio A, Ricci E, Mirabella M, Di Mauro S, Tonali P. Uncini A, et al. Among authors: mirabella m. Muscle Nerve. 1994 Jun;17(6):667-74. doi: 10.1002/mus.880170616. Muscle Nerve. 1994. PMID: 8196710

3

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. Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342. Neurology. 1993. PMID: 8232953

4

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family.

Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E, Papacci M, Rana M, Tonali P. Manfredi G, et al. Among authors: mirabella m. J Neurol Sci. 1993 Mar;115(1):91-4. doi: 10.1016/0022-510x(93)90071-6. J Neurol Sci. 1993. PMID: 8468596

5

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. Neurology. 1998 Aug;51(2):592-5. doi: 10.1212/wnl.51.2.592. Neurology. 1998. PMID: 9710043

6

The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription.

Mirabella M, Servidei S, Broccolini A, Gandolfi N, Ricci E, Neri G, Tonali P, Brahe C. Mirabella M, et al. Neurogenetics. 1999 Apr;2(2):97-100. doi: 10.1007/s100480050059. Neurogenetics. 1999. PMID: 10369885

7

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.

Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, Gennarelli M, Sangiuolo F, Ricci E, Mohrenweiser HW, Dallapiccola B, Tonali P, Novelli G. Servidei S, et al. Among authors: mirabella m. Neurology. 1999 Sep 11;53(4):830-7. doi: 10.1212/wnl.53.4.830. Neurology. 1999. PMID: 10489050

8

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.

Mirabella M, Di Giovanni S, Silvestri G, Tonali P, Servidei S. Mirabella M, et al. Brain. 2000 Jan;123 ( Pt 1):93-104. doi: 10.1093/brain/123.1.93. Brain. 2000. PMID: 10611124

9

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.

Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, Tonali P, Servidei S. Mirabella M, et al. Neurology. 2000 Feb 8;54(3):608-14. doi: 10.1212/wnl.54.3.608. Neurology. 2000. PMID: 10680791

10

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.

Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V. Piluso G, et al. Among authors: mirabella m. J Biol Chem. 2000 May 26;275(21):15851-60. doi: 10.1074/jbc.M000439200. J Biol Chem. 2000. PMID: 10747910 Free article.

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