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

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Authors: Sarpong; Schottmann; Rüther; Stoltenburg; Kohlschütter; Hübner; Schuelke

Source: Clinical Genetics, Volume 76, Number 1, July 2009 , pp. 38-45(8)

Publisher: Blackwell Publishing

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

Neurodevelopmental delay in the Cln3^Δex7/8 mouse model for Batten disease

Authors: Osório; Sampaio-Marques; Chan; Oliveira; Pearce; Sousa; Rodrigues

Source: Genes, Brain & Behavior, Volume 8, Number 3, April 2009 , pp. 337-345(9)

Publisher: Blackwell Publishing

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

Oxidative stress in developmental brain disorders

Author: Hayashi, Masaharu

Source: Neuropathology, Volume 29, Number 1, February 2009 , pp. 1-8(8)

Publisher: Blackwell Publishing

Protein acyl thioesterases (Review)

Authors: Zeidman, Ruth; Jackson, Caroline; Magee, Anthony

Source: Molecular Membrane Biology, Volume 26, Numbers 1-2, December 2008 , pp. 32-41(10)

Publisher: Informa Healthcare

In the Rat Brain Acetyl-l-carnitine Treatment Modulates the Expression of Genes Involved in Neuronal Ceroid Lipofuscinosis

Authors: Traina, Giovanna; Bernardi, Rodolfo; Cataldo, Enrico; Macchi, Monica; Durante, Mauro; Brunelli, Marcello

Source: Molecular Neurobiology, Volume 38, Number 2, October 2008 , pp. 146-152(7)

Publisher: Humana Press

Inherited Ocular Disorders, Ophthalmic Procedures and Carnitines

Authors: Pescosolido, Nicola; Imperatrice, Barbara; Karavitis, Panagiotis

Source: Drugs in R&D, Volume 9, Supplement 1, 2008 , pp. 23-32(10)

Publisher: Adis International

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

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

Authors: Tinsa, Faten; Caillaud, Catherine; Jallouli, Manel; Louati, Hela; Bousnina, Dorra; Boussetta, Khadija; Bousnina, Souad

Source: Neuro-Ophthalmology, Volume 32, Number 4, August 2008 , pp. 210-213(4)

Publisher: Informa Healthcare

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

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

Authors: Jabs, Sabrina; Quitsch, Arne; Käkelä, Reijo; Koch, Bettina; Tyynelä, Jaana; Brade, Helmut; Glatzel, Markus; Walkley, Steven; Saftig, Paul; Vanier, Marie T.; Braulke, Thomas

Source: Journal of Neurochemistry, Volume 106, Number 3, August 2008 , pp. 1415-1425(11)

Publisher: Blackwell Publishing

Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease

Authors: Sulzer, David; Mosharov, Eugene; Talloczy, Zsolt; Zucca, Fabio A.; Simon, John D.; Zecca, Luigi

Source: Journal of Neurochemistry, Volume 106, Number 1, July 2008 , pp. 24-36(13)

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