Muntoni F - Search Results

1

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. Among authors: muntoni f. Eur J Paediatr Neurol. 1998;2(5):255-61. doi: 10.1016/s1090-3798(98)80039-1. Eur J Paediatr Neurol. 1998. PMID: 10726828

2

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

3

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

4

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.

5

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

6

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

7

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.

8

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. Among authors: muntoni f. Hum Mutat. 1998;Suppl 1:S137-8. doi: 10.1002/humu.1380110146. Hum Mutat. 1998. PMID: 9452067 No abstract available.

9

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. Heart. 1997 Dec;78(6):608-12. doi: 10.1136/hrt.78.6.608. Heart. 1997. PMID: 9470882 Free PMC article.

10

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

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