Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

122 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Taschner PE, et al. Among authors: gardiner rm. Am J Med Genet. 1995 Jun 5;57(2):333-7. doi: 10.1002/ajmg.1320570246. Am J Med Genet. 1995. PMID: 7668358 Free article.
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: gardiner rm. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
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: gardiner rm. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.
Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM. Stephenson JB, et al. Among authors: gardiner rm. Mol Genet Metab. 1999 Apr;66(4):245-7. doi: 10.1006/mgme.1999.2831. Mol Genet Metab. 1999. PMID: 10191109
A murine model for juvenile NCL: gene targeting of mouse Cln3.
Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. Greene ND, et al. Among authors: gardiner rm. Mol Genet Metab. 1999 Apr;66(4):309-13. doi: 10.1006/mgme.1999.2828. Mol Genet Metab. 1999. PMID: 10191119
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
Mitchison HM, Munroe PB, O'Rawe AM, Taschner PE, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE. Mitchison HM, et al. Among authors: gardiner rm. Genomics. 1997 Mar 1;40(2):346-50. doi: 10.1006/geno.1996.4576. Genomics. 1997. PMID: 9119403
122 results