Mole SE - Search Results

1

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: mole se. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.

2

Genomic structure of three CLN3-like genes in Caenorhabditis elegans.

Mitchell WA, Porter M, Kuwabara P, Mole SE. Mitchell WA, et al. Among authors: mole se. Eur J Paediatr Neurol. 2001;5 Suppl A:121-5. doi: 10.1053/ejpn.2000.0447. Eur J Paediatr Neurol. 2001. PMID: 11588982

3

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T. Aberg L, et al. Among authors: mole se. Pediatr Neurol. 2009 Feb;40(2):134-7. doi: 10.1016/j.pediatrneurol.2008.10.012. Pediatr Neurol. 2009. PMID: 19135632

4

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R. Al-Kowari MK, et al. Among authors: mole se. J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29. J Child Neurol. 2011. PMID: 21447811

5

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

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

6

Mutation of TBCK causes a rare recessive developmental disorder.

Guerreiro RJ, Brown R, Dian D, de Goede C, Bras J, Mole SE. Guerreiro RJ, et al. Among authors: mole se. Neurol Genet. 2016 May 24;2(3):e76. doi: 10.1212/NXG.0000000000000076. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27275012 Free PMC article.

7

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: mole se. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534

8

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.

Kleine Holthaus SM, Aristorena M, Maswood R, Semenyuk O, Hoke J, Hare A, Smith AJ, Mole SE, Ali RR. Kleine Holthaus SM, et al. Among authors: mole se. Hum Gene Ther. 2020 Jul;31(13-14):709-718. doi: 10.1089/hum.2020.038. Hum Gene Ther. 2020. PMID: 32578444 Free PMC article.

9

A model for Batten disease protein CLN3: functional implications from homology and mutations.

Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. Janes RW, et al. Among authors: mole se. FEBS Lett. 1996 Dec 9;399(1-2):75-7. doi: 10.1016/s0014-5793(96)01290-2. FEBS Lett. 1996. PMID: 8980123 Free article.

10

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: mole se. Eur J Paediatr Neurol. 2001;5 Suppl A:21-7. doi: 10.1053/ejpn.2000.0429. Eur J Paediatr Neurol. 2001. PMID: 11589000

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