Williams RE - Search Results

1

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM. Simonati A, et al. Among authors: williams re. Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25. Dev Med Child Neurol. 2017. PMID: 28542837 Free article.

2

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.

Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R. Sharp J, et al. Am J Med Genet. 1995 Jun 5;57(2):348-9. doi: 10.1002/ajmg.1320570249. Am J Med Genet. 1995. PMID: 7668361

3

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.

Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I. Williams R, et al. Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168. Genomics. 1994. PMID: 8020979

4

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.

Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, et al. Williams R, et al. Am J Hum Genet. 1993 Oct;53(4):931-5. Am J Hum Genet. 1993. PMID: 8213822 Free PMC article.

5

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE. Sharp JD, et al. Among authors: williams re. Hum Mol Genet. 1997 Apr;6(4):591-5. doi: 10.1093/hmg/6.4.591. Hum Mol Genet. 1997. PMID: 9097964

6

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314

7

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE. Mitchell WA, et al. Among authors: williams re. Eur J Paediatr Neurol. 2001;5 Suppl A:21-7. doi: 10.1053/ejpn.2000.0429. Eur J Paediatr Neurol. 2001. PMID: 11589000

8

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE. Wheeler RB, et al. Among authors: williams re. Am J Hum Genet. 2002 Feb;70(2):537-42. doi: 10.1086/338708. Epub 2001 Nov 27. Am J Hum Genet. 2002. PMID: 11727201 Free PMC article.

9

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Sharp JD, et al. Among authors: williams re. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227. Hum Mutat. 2003. PMID: 12815591

10

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE, Williams RE, Goebel HH. Mole SE, et al. Among authors: williams re. Neurogenetics. 2005 Sep;6(3):107-26. doi: 10.1007/s10048-005-0218-3. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 15965709 Review.

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

454 results

Search Page

Filters