Melis MA - Search Results

1

X-linked dilated cardiomyopathy and the dystrophin gene.

Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. Ferlini A, et al. Among authors: melis ma. Neuromuscul Disord. 1999 Jul;9(5):339-46. doi: 10.1016/s0960-8966(99)00015-2. Neuromuscul Disord. 1999. PMID: 10407857 Review.

2

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.

Muntoni F, Melis MA, Ganau A, Dubowitz V. Muntoni F, et al. Among authors: melis ma. Am J Hum Genet. 1995 Jan;56(1):151-7. Am J Hum Genet. 1995. PMID: 7825571 Free PMC article.

3

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.

Muntoni F, Di Lenarda A, Porcu M, Sinagra G, Mateddu A, Marrosu G, Ferlini A, Cau M, Milasin J, Melis MA, Marrosu MG, Cianchetti C, Sanna A, Falaschi A, Camerini F, Giacca M, Mestroni L. Muntoni F, et al. Among authors: melis ma. Heart. 1997 Dec;78(6):608-12. doi: 10.1136/hrt.78.6.608. Heart. 1997. PMID: 9470882 Free PMC article.

4

Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.

Cau M, Cao A, Loi D, Puddu A, Muntoni F, Mateddu A, Melis MA. Cau M, et al. Among authors: melis ma. Hum Mutat. 1998;12(1):70. doi: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G. Hum Mutat. 1998. PMID: 10627134

5

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Muntoni F, Mateddu A, Cianchetti C, Marrosu MG, Clerk A, Cau M, Congiu R, Cao A, Melis MA. Muntoni F, et al. Among authors: melis ma. J Neurol Neurosurg Psychiatry. 1993 Jan;56(1):26-31. doi: 10.1136/jnnp.56.1.26. J Neurol Neurosurg Psychiatry. 1993. PMID: 8429320 Free PMC article.

6

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.

Melis MA, Muntoni F, Cau M, Loi D, Puddu A, Boccone L, Mateddu A, Cianchetti C, Cao A. Melis MA, et al. Hum Mutat. 1998;Suppl 1:S137-8. doi: 10.1002/humu.1380110146. Hum Mutat. 1998. PMID: 9452067 No abstract available.

7

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.

Muntoni F, Mateddu A, Marrosu MG, Cau M, Congiu R, Melis MA, Cao A, Cianchetti C. Muntoni F, et al. Among authors: melis ma. Clin Genet. 1992 Jul;42(1):35-8. doi: 10.1111/j.1399-0004.1992.tb03133.x. Clin Genet. 1992. PMID: 1355417

8

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.

Melis MA, Cau M, Muntoni F, Mateddu A, Galanello R, Boccone L, Deidda F, Loi D, Cao A. Melis MA, et al. Eur J Paediatr Neurol. 1998;2(5):255-61. doi: 10.1016/s1090-3798(98)80039-1. Eur J Paediatr Neurol. 1998. PMID: 10726828

9

Diagnosis of DMD carrier status in a family with no known affected males.

Muntoni F, Mateddu A, Cau M, Congiu R, Puddu R, Cossu P, Cao A, Melis MA. Muntoni F, et al. Among authors: melis ma. Dev Med Child Neurol. 1993 Jan;35(1):70-3. doi: 10.1111/j.1469-8749.1993.tb11554.x. Dev Med Child Neurol. 1993. PMID: 8095479

10

Identification of a novel T-insertion polymorphism at the DMD locus.

Muntoni F, Cau M, Congiu R, Congia M, Cao A, Melis MA. Muntoni F, et al. Among authors: melis ma. Hum Genet. 1993 Aug;92(1):103. doi: 10.1007/BF00216157. Hum Genet. 1993. PMID: 8396066

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