Jarre L - Search Results

1

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM. Merlini L, et al. Among authors: jarre l. Neurology. 2000 Mar 14;54(5):1075-9. doi: 10.1212/wnl.54.5.1075. Neurology. 2000. PMID: 10720277

2

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. Piccolo F, et al. Among authors: jarre l. Hum Mol Genet. 1996 Dec;5(12):2019-22. doi: 10.1093/hmg/5.12.2019. Hum Mol Genet. 1996. PMID: 8968757

3

Clinical heterogeneity of adhalin deficiency.

Morandi L, Barresi R, Di Blasi C, Jung D, Sunada Y, Confalonieri V, Dworzak F, Mantegazza R, Antozzi C, Jarre L, Pini A, Gobbi G, Bianchi C, Cornelio F, Campbell KP, Mora M. Morandi L, et al. Among authors: jarre l. Ann Neurol. 1996 Feb;39(2):196-202. doi: 10.1002/ana.410390209. Ann Neurol. 1996. PMID: 8967751

4

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M. Mariotti C, et al. Among authors: jarre l. J Neurol. 1995 May;242(5):304-12. doi: 10.1007/BF00878873. J Neurol. 1995. PMID: 7643139

5

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: jarre l. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

6

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.

Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L. Vigliano P, et al. Among authors: jarre l. Eur J Paediatr Neurol. 2009 Jan;13(1):72-6. doi: 10.1016/j.ejpn.2008.01.010. Epub 2008 Apr 11. Eur J Paediatr Neurol. 2009. PMID: 18406646

7

Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects.

Barresi R, Confalonieri V, Lanfossi M, Di Blasi C, Torchiana E, Mantegazza R, Jarre L, Nardocci N, Boffi P, Tezzon F, Pini A, Cornelio F, Mora M, Morandi L. Barresi R, et al. Among authors: jarre l. Acta Neuropathol. 1997 Jul;94(1):28-35. doi: 10.1007/s004010050668. Acta Neuropathol. 1997. PMID: 9224527

8

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N. Fabrizi GM, et al. Among authors: jarre l. Neurology. 2001 Jul 10;57(1):101-5. doi: 10.1212/wnl.57.1.101. Neurology. 2001. PMID: 11445635

9

Cognitive evolution of a girl submitted to right hemispherotomy when five years old.

Vigliano P, Margary G, Bagnasco I, Jarre L. Vigliano P, et al. Among authors: jarre l. Brain Dev. 2010 Aug;32(7):579-82. doi: 10.1016/j.braindev.2009.07.010. Epub 2009 Aug 27. Brain Dev. 2010. PMID: 19716245

10

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Di Blasi C, Jarre L, Blasevich F, Dassi P, Mora M. Di Blasi C, et al. Among authors: jarre l. Neuromuscul Disord. 2008 Dec;18(12):962-6. doi: 10.1016/j.nmd.2008.09.008. Epub 2008 Nov 5. Neuromuscul Disord. 2008. PMID: 18990578

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