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

Identification of structurally conserved residues of proteins in absence of structural homologs using neural network ensemble

Authors: Pugalenthi, Ganesan; Tang, Ke; Suganthan, P. N.; Chakrabarti, Saikat

Source: Bioinformatics, Volume 25, Number 2, 15 January 2009 , pp. 204-210(7)

Publisher: Oxford University Press

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

Tear ferning in contact lens wearers

Authors: Evans, Katharine S. E.; North, Rachel V.; Purslow, Christine

Source: Ophthalmic and Physiological Optics, Volume 29, Number 2, March 2009 , pp. 199-204(6)

Publisher: Blackwell Publishing

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

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

Author: Jentsch, Thomas

Source: Critical Reviews in Biochemistry and Molecular Biology, Volume 43, Number 1, January 2008 , pp. 3-36(34)

Publisher: Informa Healthcare

Signalling Inhibitors Against Mycobacterium tuberculosis - Early Days of a New Therapeutic Concept in Tuberculosis

Authors: Hegymegi-Barakonyi, B.; Szekely, R.; Varga, Z.; Kiss, R.; Borbely, G.; Nemeth, G.; Banhegyi, P.; Pato, J.; Greff, Z.; Horvath, Z.; Meszaros, G.; Marosfalvi, J.; Eros, D.; Szantai-Kis, C.; Breza, N.; Garavaglia, S.; Perozzi, S.; Rizzi, M.; Hafenbradl, D.; Ko, M.; Av-Gay, Y.; Klebl, B. M.; Orfi, L.; Keri, G.

Source: Current Medicinal Chemistry, Volume 15, Number 26, November 2008 , pp. 2760-2770(11)

Publisher: Bentham Science Publishers

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

Blue shifts vs red shifts in σ-hole bonding

Authors: Murray, Jane; Concha, Monica; Lane, Pat; Hobza, Pavel; Politzer, Peter

Source: Journal of Molecular Modeling, Volume 14, Number 8, August 2008 , pp. 699-704(6)

Publisher: Springer

Activation of chloride secretion via proteinase-activated receptor 2 in a human eccrine sweat gland cell line - NCL-SG3

Authors: Bovell, Douglas L.; Santic, Radmila; Kofler, Barbara; Hermann, Anton; Wilson, Darius; Corbett, Alistair; Lang, Roland

Source: Experimental Dermatology, Volume 17, Number 6, June 2008 , pp. 505-511(7)

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

The SBML discrete stochastic models test suite

Authors: Evans, Thomas W.; Gillespie, Colin S.; Wilkinson, Darren J.

Source: Bioinformatics, Volume 24, Number 2, 15 January 2008 , pp. 285-286(2)

Publisher: Oxford University Press

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