Muntoni F - Search Results

1

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. Hum Genet. 1993 Aug;92(1):103. doi: 10.1007/BF00216157. Hum Genet. 1993. PMID: 8396066

2

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. Clin Genet. 1992 Jul;42(1):35-8. doi: 10.1111/j.1399-0004.1992.tb03133.x. Clin Genet. 1992. PMID: 1355417

3

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. 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

4

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.

Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A. Melis MA, et al. Among authors: muntoni f. Clin Genet. 1993 May;43(5):247-9. doi: 10.1111/j.1399-0004.1993.tb03811.x. Clin Genet. 1993. PMID: 8375105

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. 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

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: muntoni f. 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

7

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. Am J Hum Genet. 1995 Jan;56(1):151-7. Am J Hum Genet. 1995. PMID: 7825571 Free PMC article.

8

Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.

Cucca F, Muntoni F, Lampis R, Frau F, Argiolas L, Silvetti M, Angius E, Cao A, De Virgiliis S, Congia M. Cucca F, et al. Among authors: muntoni f. Hum Immunol. 1993 Jun;37(2):85-94. doi: 10.1016/0198-8859(93)90146-r. Hum Immunol. 1993. PMID: 8226139

9

A novel HLA-DQB1 allele: evidence for gene conversion event promoted by chi-like sequence at DQB1 locus.

Cucca F, Muntoni F, Lampis R, Frau F, Cao A, De Virgiliis S, Congia M. Cucca F, et al. Among authors: muntoni f. Tissue Antigens. 1993 May;41(5):263-6. doi: 10.1111/j.1399-0039.1993.tb02017.x. Tissue Antigens. 1993. PMID: 8236238 No abstract available.

10

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, et al. Muntoni F, et al. N Engl J Med. 1993 Sep 23;329(13):921-5. doi: 10.1056/NEJM199309233291304. N Engl J Med. 1993. PMID: 8361506 Free article. No abstract available.

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