Muntoni F - Search Results

1

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. Zeviani M, et al. Among authors: muntoni f. Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390. Eur J Hum Genet. 1993. PMID: 8069654

2

Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap.

Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C. Serra G, et al. Among authors: muntoni f. Brain Dev. 1996 May-Jun;18(3):185-91. doi: 10.1016/0387-7604(95)00147-6. Brain Dev. 1996. PMID: 8836498

3

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J. Uusimaa J, et al. Among authors: muntoni f. J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995. J Med Genet. 2011. PMID: 21931168 Free PMC article.

4

Passive avoidance behaviour deficit in the mdx mouse.

Muntoni F, Mateddu A, Serra G. Muntoni F, et al. Neuromuscul Disord. 1991;1(2):121-3. doi: 10.1016/0960-8966(91)90059-2. Neuromuscul Disord. 1991. PMID: 1822782

5

Muscular weakness in the mdx mouse.

Muntoni F, Mateddu A, Marchei F, Clerk A, Serra G. Muntoni F, et al. J Neurol Sci. 1993 Dec 1;120(1):71-7. doi: 10.1016/0022-510x(93)90027-v. J Neurol Sci. 1993. PMID: 8289081

6

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

7

Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in Sardinian multiple sclerosis patients.

Marrosu MG, Mazzoleni AP, Galantuomo S, Melis A, Muntoni F, Lai E. Marrosu MG, et al. Among authors: muntoni f. Eur Neurol. 1992;32(4):195-8. doi: 10.1159/000116821. Eur Neurol. 1992. PMID: 1505588

8

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.

Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M. Milasin J, et al. Among authors: muntoni f. Hum Mol Genet. 1996 Jan;5(1):73-9. doi: 10.1093/hmg/5.1.73. Hum Mol Genet. 1996. PMID: 8789442

9

Alternative splicing of dystrophin exon 4 in normal human muscle.

Torelli S, Muntoni F. Torelli S, et al. Among authors: muntoni f. Hum Genet. 1996 Apr;97(4):521-3. doi: 10.1007/BF02267079. Hum Genet. 1996. PMID: 8834255

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

950 results

Search Page

Filters