Literature DB >> 29595823

Novel gene variations in early-onset frontotemporal dementia with positive family history of neural ceroid lipofuscinosis-1.

Haang Jeung1, Philipp Arthur Thomann1, Robert Christian Wolf1.   

Abstract

Entities:  

Year:  2015        PMID: 29595823      PMCID: PMC5802472          DOI: 10.1212/CPJ.0000000000000134

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


× No keyword cloud information.
  7 in total

1.  Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

Authors:  H Ramadan; A S Al-Din; A Ismail; F Balen; A Varma; A Twomey; R Watts; M Jackson; G Anderson; E Green; S E Mole
Journal:  Neurology       Date:  2007-01-30       Impact factor: 9.910

Review 2.  Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.

Authors:  D Neary; J S Snowden; L Gustafson; U Passant; D Stuss; S Black; M Freedman; A Kertesz; P H Robert; M Albert; K Boone; B L Miller; J Cummings; D F Benson
Journal:  Neurology       Date:  1998-12       Impact factor: 9.910

3.  Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Authors:  Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen-Lang Lin; Dennis W Dickson; Hans-Henrik Dahl; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

4.  Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

Authors:  O P van Diggelen; S Thobois; C Tilikete; M T Zabot; J L Keulemans; P A van Bunderen; P E Taschner; M Losekoot; Y V Voznyi
Journal:  Ann Neurol       Date:  2001-08       Impact factor: 10.422

Review 5.  Tau pathology and neurodegeneration.

Authors:  Maria Grazia Spillantini; Michel Goedert
Journal:  Lancet Neurol       Date:  2013-06       Impact factor: 44.182

Review 6.  Neuronal ceroid-lipofuscinoses in childhood.

Authors:  P Santavuori
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

Review 7.  The genetics and neuropathology of frontotemporal lobar degeneration.

Authors:  Anne Sieben; Tim Van Langenhove; Sebastiaan Engelborghs; Jean-Jacques Martin; Paul Boon; Patrick Cras; Peter-Paul De Deyn; Patrick Santens; Christine Van Broeckhoven; Marc Cruts
Journal:  Acta Neuropathol       Date:  2012-08-14       Impact factor: 17.088

  7 in total
  2 in total

Review 1.  Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Authors:  Nicola Specchio; Alessandro Ferretti; Marina Trivisano; Nicola Pietrafusa; Chiara Pepi; Costanza Calabrese; Susanna Livadiotti; Alessandra Simonetti; Paolo Rossi; Paolo Curatolo; Federico Vigevano
Journal:  Drugs       Date:  2021-01       Impact factor: 9.546

2.  Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Authors:  Jonathan B Rosenberg; Alvin Chen; Stephen M Kaminsky; Ronald G Crystal; Dolan Sondhi
Journal:  Expert Opin Orphan Drugs       Date:  2019-11-27       Impact factor: 0.694

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.