Nelson I - Search Results

1

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

Zsurka G, Hampel KG, Nelson I, Jardel C, Mirandola SR, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz WS. Zsurka G, et al. Among authors: nelson i. Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab. Neurology. 2010. PMID: 20142618

2

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR. Chalmers RM, et al. Among authors: nelson i. Neurology. 1997 Aug;49(2):589-92. doi: 10.1212/wnl.49.2.589. Neurology. 1997. PMID: 9270602

3

Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.

Pulkes T, Liolitsa D, Nelson IP, Hanna MG. Pulkes T, et al. Neurology. 2003 Oct 28;61(8):1144-7. doi: 10.1212/01.wnl.0000090465.27024.3d. Neurology. 2003. PMID: 14581685

4

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Fraidakis MJ, Jardel C, Allouche S, Nelson I, Auré K, Slama A, Lemière I, Thenint JP, Hamon JB, Zagnoli F, Heron D, Sedel F, Lombès A. Fraidakis MJ, et al. Among authors: nelson i. Mitochondrion. 2014 Mar;15:34-9. doi: 10.1016/j.mito.2014.03.010. Epub 2014 Mar 29. Mitochondrion. 2014. PMID: 24691472 Free article.

5

A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.

Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE. Nelson I, et al. Ann Neurol. 1995 Mar;37(3):400-3. doi: 10.1002/ana.410370317. Ann Neurol. 1995. PMID: 7695240

6

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW. Hanna MG, et al. Among authors: nelson ip. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):512-7. doi: 10.1136/jnnp.65.4.512. J Neurol Neurosurg Psychiatry. 1998. PMID: 9771776 Free PMC article.

7

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA, Hanna MG. Pulkes T, et al. Among authors: nelson ip. Ann Neurol. 1999 Dec;46(6):916-9. doi: 10.1002/1531-8249(199912)46:6<916::aid-ana16>3.0.co;2-r. Ann Neurol. 1999. PMID: 10589546

8

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. Pulkes T, et al. Among authors: nelson ip. Neuromuscul Disord. 2005 May;15(5):364-71. doi: 10.1016/j.nmd.2005.01.006. Neuromuscul Disord. 2005. PMID: 15833431

9

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. Namekawa M, et al. Among authors: nelson i. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e. Neurology. 2006. PMID: 16401858

10

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.

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