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Elsevier电子期刊(105)

在“Elsevier电子期刊”中，命中：105条，耗时：小于0.01 秒

在所有数据库中总计命中：105条

1.Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: interim results from an ongoing multicenter, multinational extension study

作者：Angela Schulz^a ; Nicola Specchio^b ; Paul Gissen^c ; Emily de los Reyes^d ; Heather Cahan^e ; Peter Slasor^e ; Temitayo Ajayi^e ; David Jacoby^e

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Immunogenicity to cerliponase alfa, an enzyme replacement therapy for patients with CLN2 disease: results from a phase 1/2 study

作者：Anu Cherukuri ; Heather Cahan ; Andrea Van Tuyl ; Greg de Hart ; Peter Slasor ; Laurie Bray ; Josh Henshaw ; Temitayo Ajayi ; Dave Jacoby ; Charles O'Neill ; Becky Schweighardt

刊名：Molecular Genetics and Metabolism

出版年：2017

3.Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

作者：Helena M. Minye^b ; ^{dr.minye@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Anna-Liisa Fabritius^a ; ^b ; Jouni Vesa^b ; Leena Peltonen^b ; ^c

关键词：Neurogenetics ; CLN genes ; CLN1/CLN2/CLN3/CLN5 ; Embryonic neurogenesis ; Neurotransmission ; molecular genetics ; Neuronal ceroid lipofuscinoses ; Neuronal differentiation ; neuroplasticity ; and synaptic pruning

刊名：Data in Brief

出版年：2016

4.Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis

关键词：Retinal degeneration ; Gene therapy ; Stem cell therapy ; Dog model ; Electroretinogram ; Retinal detachment

刊名：Experimental Eye Research

出版年：2016

5.Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease

作者：Rebecca E.H. Whiting^a ; ^{whitingre@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author} ; Cheryl A. Jensen^a ; ^{jensenc@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author} ; Jacqueline W. Pearce^b ; ^{pearcej@missouri.edu" class="auth_mail" title="E-mail the corresponding author} ; Lauren E. Gillespie^a ; ^{gillespiel@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author} ; Daniel E. Bristow^c ; ^{debdn2@mail.missouri.edu" class="auth_mail" title="E-mail the corresponding author} ; Martin L. Katz^a ; ^{katzm@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Neuronal ceroid lipofuscinosis ; Gene therapy ; Retinal degeneration ; Optic nerve

刊名：Experimental Eye Research

出版年：2016

6.Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

作者：Michael Fietz^a ; Moeenaldeen AlSayed^b ; Derek Burke^c ; Jessica Cohen-Pfeffer^d ; Jonathan D. Cooper^e ; Lenka Dvořá ; ková ; ^f ; Roberto Giugliani^g ; Emanuela Izzo^d ; Helena Jahnová ; ^f ; Zoltan Lukacs^h ; Sara E. Moleⁱ ; Ines Noher de Halac^j ; David A. Pearce^k ; Helena Poupetova^f ; Angela Schulz^l ; Nicola Specchio^m ; Winnie Xinⁿ ; Nicole Miller^d ; ^{NMiller@bmrn.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Neuronal ceroid lipofuscinosis ; Laboratory diagnosis ; Lysosomal storage disorder ; Expert recommendations ; Neurodegeneration ; Genetic cause of epilepsy

刊名：Molecular Genetics and Metabolism

出版年：2016

7.P89 - 2878: Neuronal ceroid lipofuscinosis-2 (CLN2) natural history and path to diagnosis: International experts' current experience and recommendations on CLN2 disease, a type of Batten disease, resulting from TPP1 enzyme deficiency

作者：A. Schulz ; N. Miller ; S.E. Mole ; J.L. Cohen-Pfeffer

刊名：European Journal of Paediatric Neurology

出版年：2015

8.Proteomic analysis of urine reveals potential markers for CLN2 Batten disease

作者：Wendy E. Heywood^a ; Ivan Doykov^a ; Ernestas Sirka^a ; Robert Clayton^a ; Barbara Csá ; nyi^b ; Maureen Cleary^b ; Emma Footitt^b ; Anupam Chakrapani^b ; Lara Abulhoul^b ; Stephanie Grunewald^b ; Sara Mole^a ; Paul Gissen^b ; Kevin Mills^a

刊名：Molecular Genetics and Metabolism

出版年：2016

9.Expert opinion on the management of CLN2 disease

作者：Angela Schulz^a ; Heather R. Adams^b ; Martin Blohm^a ; Jessica L. Cohen-Pfeffer^c ; Emily de los Reyes^d ; Jonas Denecke^a ; Kristen Drago^e ; Charlie Fairhurst^f ; Margie Frazier^g ; Norberto Guelbert^h ; Szilá ; rd Kissⁱ ; Annamaria Kofler^j ; John Lawson^k ; Lenora Lehwald^d ; Mary-Anne Leung^f ; Svetlana Mikhailova^l ; Jonathan W. Mink^b ; Miriam Nickel^a ; René ; e Shediac^c ; Katherine Sims^m ; Nicola Specchio^j ; Meral Topcuⁿ ; Ina von Lö ; bbecke^o ; Andrea West^p ; Ruth E. Williams^f

刊名：Molecular Genetics and Metabolism

出版年：2016

10.Possibilities for an early diagnosis of CLN2-disease

作者：Simona Murko ; René ; Santer ; Alfried Kohlschuetter ; Miriam Nickel ; Angela Schulz ; Zoltan Lukacs

刊名：Molecular Genetics and Metabolism

出版年：2016

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