Search Results

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Authors: Kohan, R; Cismondi, IA; Dodelson Kremer, R; Muller, VJ; Guelbert, N; Tapia Anzolini, V; Fietz, MJ; Oller Ramírez, AM; Noher Halac, I

Source: Clinical Genetics, Volume 76, Number 4, October 2009 , pp. 372-382(11)

Publisher: Blackwell Publishing

Neuronal ceroid lipofuscinoses: many players, and more to come

Authors: Simonati, Alessandro; Cannelli, Natalia; Pezzini, Francesco; Aiello, Chiara; Bianchi, Marzia; Tessa, Alessandra; Santorelli, Filippo M

Source: Future Neurology, Volume 4, Number 5, September 2009 , pp. 601-616(16)

Publisher: Future Medicine

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Authors: Ramachandran, Nivetha; Girard, Jean-Marie; Turnbull, Julie; Minassian, Berge A.

Source: Epilepsia, Volume 50, Supplement 5, May 2009 , pp. 29-36(8)

Publisher: Blackwell Publishing

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

Authors: Kousi, Maria; Siintola, Eija; Dvorakova, Lenka; Vlaskova, Hana; Turnbull, Julie; Topcu, Meral; Yuksel, Deniz; Gokben, Sarenur; Minassian, Berge A.; Elleder, Milan; Mole, Sara E.; Lehesjoki, Anna-Elina

Source: Brain, Volume 132, Number 3, 27 March 2009 , pp. 810-819(10)

Publisher: Oxford University Press

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Authors: Stogmann, E.; Tawil, S.; Wagenstaller, J.; Gaber, A.; Edris, S.; Abdelhady, A.; Assem-Hilger, E.; Leutmezer, F.; Bonelli, S.; Baumgartner, C.; Zimprich, F.; Strom, T.; Zimprich, A.

Source: Neurogenetics, Volume 10, Number 1, February 2009 , pp. 73-77(5)

Publisher: Springer

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Authors: Fritchie, Karen; Siintola, Eija; Armao, Diane; Lehesjoki, Anna-Elina; Marino, Thomas; Powell, Cynthia; Tennison, Michael; Booker, Jessica; Koch, Sabine; Partanen, Sanna; Suzuki, Kinuko; Tyynelä, Jaana; Thorne, Leigh

Source: Acta Neuropathologica, Volume 117, Number 2, February 2009 , pp. 201-208(8)

Publisher: Springer

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor

Authors: Metcalf, Daniel J; Calvi, Alessandra A; Seaman, Matthew NJ; Mitchison, Hannah M; Cutler, Daniel F

Source: Traffic, Volume 9, Number 11, November 2008 , pp. 1905-1914(10)

Publisher: Blackwell Publishing

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

Authors: Moore; Buckley; MacMillan; Marshall; Steele; Ray; Nawaz; Baskin; Frecker; Carr; Ives; Parfrey

Source: Clinical Genetics, Volume 74, Number 3, September 2008 , pp. 213-222(10)

Publisher: Blackwell Publishing

Analysis of NCL Proteins from an Evolutionary Standpoint

Authors: Muzaffar, Neda E.; Pearce, David A.

Source: Current Genomics, Volume 9, Number 2, April 2008 , pp. 115-136(22)

Publisher: Bentham Science Publishers

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis

Authors: Kitzmller, Claudia; Haines, Rebecca L.; Codlin, Sandra; Cutler, Daniel F.; Mole, Sara E.

Source: Human Molecular Genetics, Volume 17, Number 2, 15 January 2008 , pp. 303-312(10)

Publisher: Oxford University Press

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

Authors: Wei, Hui; Kim, Sung-Jo; Zhang, Zhongjian; Tsai, Pei-Chih; Wisniewski, Krystyna E.; Mukherjee, Anil B.

Source: Human Molecular Genetics, Volume 17, Number 4, 14 February 2008 , pp. 469-477(9)

Publisher: Oxford University Press

Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies

Authors: Getty, Amanda L; Rothberg, Paul G; Pearce, David A

Source: Expert Opinion on Medical Diagnostics, Volume 1, Number 3, November 2007 , pp. 351-362(12)

Publisher: Informa Healthcare

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

Authors: Kälviäinen, R.; Eriksson, K.; Losekoot, M.; Sorri, I.; Harvima, I.; Santavuori, P.; Järvelä, I.; Autti, T.; Vanninen, R.; Salmenperä, T.; van Diggelen, O. P.

Source: European Journal of Neurology, Volume 14, Number 4, April 2007 , pp. 369-372(4)

Publisher: Blackwell Publishing

Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses

Authors: Hachiya, Yasuo; Hayashi, Masaharu; Kumada, Satoko; Uchiyama, Akira; Tsuchiya, Kuniaki; Kurata, Kiyoko

Source: Acta Neuropathologica, Volume 111, Number 2, February 2006 , pp. 168-177(10)

Publisher: Springer

Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis

Authors: Lim, M. J.; Beake, J.; Bible, E.; Curran, T. M.; Ramirez-Montealegre, D.; Pearce, D. A.; Cooper, J. D.

Source: Neuropathology & Applied Neurobiology, Volume 32, Number 5, October 2006 , pp. 469-482(14)

Publisher: Blackwell Publishing

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

Authors: Siintola, E; Topcu, M; Kohlschütter, A; Salonen, T; Joensuu, T; Anttonen, A-K; Lehesjoki, A-E

Source: Clinical Genetics, Volume 68, Number 2, August 2005 , pp. 167-173(7)

Publisher: Blackwell Publishing

Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in Dog

Authors: Drögemüller, C.; Wöhlke, A.; Distl, O.

Source: Journal of Heredity, Volume 96, Number 7, November 2005 , pp. 735-738(4)

Publisher: Oxford University Press

What Have Microarrays Told Us About the Neuronal Ceroid Lipofuscinoses?

Authors: Chan, Chun-Hung; Pearce, David A.

Source: Current Genomics, Volume 6, Number 4, June 2005 , pp. 257-268(12)

Publisher: Bentham Science Publishers

Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease

Authors: Cho, Steve K.; Gao, Ningguo; Pearce, David A.; Lehrman, Mark A.; Hofmann, Sandra L.

Source: Glycobiology, Volume 15, Number 6, June 2005 , pp. 637-648(12)

Publisher: Oxford University Press

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

Authors: Kopra, Outi; Vesa, Jouni; von Schantz, Carina; Manninen, Tuula; Minye, Helena; Fabritius, Anna-Liisa; Rapola, Juhani; Diggelen, Otto P. van; Saarela, Janna; Jalanko, Anu; Peltonen, Leena

Source: Human Molecular Genetics, Volume 13, Number 23, 1 December 2004 , pp. 2893-2906(14)

Publisher: Oxford University Press