Williams RE - Search Results

1

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. Aiello C, et al. Among authors: williams re. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532

2

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

3

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: williams re. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237

4

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

5

Analysis of candidate genes in the CLN6 critical region using in silico cloning.

Sharp JD, Wheeler RB, Schultz RA, Joslin JM, Mole SE, Williams RE, Gardiner RM. Sharp JD, et al. Among authors: williams re. Eur J Paediatr Neurol. 2001;5 Suppl A:29-31. doi: 10.1053/ejpn.2000.0430. Eur J Paediatr Neurol. 2001. PMID: 11589002

6

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.

7

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

8

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.

9

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Williams RE, Mole SE. Williams RE, et al. Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. Neurology. 2012. PMID: 22778232

10

NCL diseases - clinical perspectives.

Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Schulz A, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602993 Free PMC article.

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