Merlini L - Search Results

1

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Sangiuolo F, et al. Among authors: merlini l. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406

2

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B. Gennarelli M, et al. Among authors: merlini l. Biochem Biophys Res Commun. 1995 Aug 4;213(1):342-8. doi: 10.1006/bbrc.1995.2135. Biochem Biophys Res Commun. 1995. PMID: 7639755

3

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.

Capon F, Levato C, Semprini S, Pizzuti A, Merlini L, Novelli G, Dallapiccola B. Capon F, et al. Among authors: merlini l. Muscle Nerve. 1996 Mar;19(3):378-80. doi: 10.1002/(SICI)1097-4598(199603)19:3<378::AID-MUS17>3.0.CO;2-O. Muscle Nerve. 1996. PMID: 8606706 No abstract available.

4

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.

Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo ML, Politano L, Novelli G, Dallapiccola B. Capon F, et al. Among authors: merlini l. Neuromuscul Disord. 1996 Aug;6(4):261-4. doi: 10.1016/0960-8966(96)00350-1. Neuromuscul Disord. 1996. PMID: 8887955

5

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Raffaele Di Barletta M, et al. Among authors: merlini l. Am J Hum Genet. 2000 Apr;66(4):1407-12. doi: 10.1086/302869. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739764 Free PMC article.

6

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. Pepe G, et al. Among authors: merlini l. Neuromuscul Disord. 1999 Jun;9(4):264-71. doi: 10.1016/s0960-8966(99)00014-0. Neuromuscul Disord. 1999. PMID: 10399756

7

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F. Mostacciuolo ML, et al. Among authors: merlini l. Hum Mutat. 2001;18(1):32-41. doi: 10.1002/humu.1147. Hum Mutat. 2001. PMID: 11438991

8

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: merlini l. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

9

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML. Schiavon F, et al. Among authors: merlini l. Hum Mutat. 1998;Suppl 1:S217-9. doi: 10.1002/humu.1380110170. Hum Mutat. 1998. PMID: 9452091 No abstract available.

10

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al. Bione S, et al. Among authors: merlini l. Hum Mol Genet. 1995 Oct;4(10):1859-63. doi: 10.1093/hmg/4.10.1859. Hum Mol Genet. 1995. PMID: 8595407

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

486 results

Search Page

Filters