Literature DB >> 17261688

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

H Ramadan1, A S Al-Din, A Ismail, F Balen, A Varma, A Twomey, R Watts, M Jackson, G Anderson, E Green, S E Mole.   

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Year:  2007        PMID： 17261688     DOI： 10.1212/01.wnl.0000252825.85947.2f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  20 in total

Review 1.  Classification and natural history of the neuronal ceroid lipofuscinoses.

Authors:  Jonathan W Mink; Erika F Augustine; Heather R Adams; Frederick J Marshall; Jennifer M Kwon
Journal:  J Child Neurol       Date:  2013-07-09       Impact factor: 1.987

2.  Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Authors:  Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux-Dion; Patrick Cossette; Ivana Jedličková; Anna Přistoupilová; Sara E Mole
Journal:  Neurology       Date:  2016-07-13       Impact factor: 9.910

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

Authors:  Haang Jeung; Philipp Arthur Thomann; Robert Christian Wolf
Journal:  Neurol Clin Pract       Date:  2015-12

Review 4.  Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

Authors:  R Kohan; I A Cismondi; A M Oller-Ramirez; N Guelbert; Tapia V Anzolini; G Alonso; S E Mole; Dodelson R de Kremer; Noher I de Halac
Journal:  Curr Pharm Biotechnol       Date:  2011-06       Impact factor: 2.837

5.  Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.

Authors:  Jie Hu; Jui-Yun Lu; Andrew M S Wong; Linda S Hynan; Shari G Birnbaum; Denis S Yilmaz; Barbara M Streit; Ewelina M Lenartowicz; Thomas C M Thompson; Jonathan D Cooper; Sandra L Hofmann
Journal:  Mol Genet Metab       Date:  2012-05-22       Impact factor: 4.797

6.  Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Authors:  Cecilia Mancini; Stefano Nassani; Yiran Guo; Yulan Chen; Elisa Giorgio; Alessandro Brussino; Eleonora Di Gregorio; Simona Cavalieri; Nicola Lo Buono; Ada Funaro; Nicola Renato Pizio; Bruce Nmezi; Aija Kyttala; Filippo Maria Santorelli; Quasar Salem Padiath; Hakon Hakonarson; Hao Zhang; Alfredo Brusco
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

7.  Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.

Authors:  Martín Gómez Ravetti; Osvaldo A Rosso; Regina Berretta; Pablo Moscato
Journal:  PLoS One       Date:  2010-04-13       Impact factor: 3.240

8.  Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.

Authors:  David E Sleat; Lin Ding; Shudan Wang; Caifeng Zhao; Yanhong Wang; Winnie Xin; Haiyan Zheng; Dirk F Moore; Katherine B Sims; Peter Lobel
Journal:  Mol Cell Proteomics       Date:  2009-04-20       Impact factor: 5.911

9.  NCL diseases - clinical perspectives.

Authors:  Angela Schulz; Alfried Kohlschütter; Jonathan Mink; Alessandro Simonati; Ruth Williams
Journal:  Biochim Biophys Acta       Date:  2013-04-17

10.  The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.

Authors:  Jake N Miller; Attila D Kovács; David A Pearce
Journal:  Hum Mol Genet       Date:  2014-09-08       Impact factor: 6.150
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