Literature DB >> 25274848

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.

Roberto Di Fabio1, Francesca Moro1, Liliana Pestillo1, Maria C Meschini1, Francesco Pezzini1, Stefano Doccini1, Carlo Casali1, Francesco Pierelli1, Alessandro Simonati1, Filippo M Santorelli2.   

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Year:  2014        PMID： 25274848     DOI： 10.1212/WNL.0000000000000953

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


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  10 in total

1.  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

Review 2.  Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis.

Authors:  Yasir H Qureshi; Penelope Baez; Christiane Reitz
Journal:  Mol Cell Biol       Date:  2020-09-14       Impact factor: 4.272

Review 3.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

4.  Brain imaging in Kufs disease type B: case reports.

Authors:  Roberto Di Fabio; Claudio Colonnese; Filippo Maria Santorelli; Liliana Pestillo; Francesco Pierelli
Journal:  BMC Neurol       Date:  2015-07-04       Impact factor: 2.474

5.  The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Authors:  Cornelis Blauwendraat; Carlo Wilke; Javier Simón-Sánchez; Iris E Jansen; Anika Reifschneider; Anja Capell; Christian Haass; Melissa Castillo-Lizardo; Saskia Biskup; Walter Maetzler; Patrizia Rizzu; Peter Heutink; Matthis Synofzik
Journal:  Genet Med       Date:  2017-07-27       Impact factor: 8.822

Review 6.  Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

Authors:  Valeria De Pasquale; Anna Moles; Luigi Michele Pavone
Journal:  Cells       Date:  2020-04-15       Impact factor: 6.600

7.  Glycosylated Cathepsin V Serves as a Prognostic Marker in Lung Cancer.

Authors:  Lewei Yang; Qi Zeng; Yun Deng; Yeqing Qiu; Wei Yao; Yifeng Liao
Journal:  Front Oncol       Date:  2022-04-13       Impact factor: 5.738

8.  Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Authors:  Jose Bras; Ruth Djaldetti; Ana Margarida Alves; Simon Mead; Lee Darwent; Alberto Lleo; Jose Luis Molinuevo; Rafael Blesa; Andrew Singleton; John Hardy; Jordi Clarimon; Rita Guerreiro
Journal:  Neurobiol Aging       Date:  2016-07-04       Impact factor: 4.673

9.  Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

Authors:  Julie van der Zee; Peter Mariën; Roeland Crols; Sara Van Mossevelde; Lubina Dillen; Federica Perrone; Sebastiaan Engelborghs; Jo Verhoeven; Tine D'aes; Chantal Ceuterick-De Groote; Anne Sieben; Jan Versijpt; Patrick Cras; Jean-Jacques Martin; Christine Van Broeckhoven
Journal:  Neurol Genet       Date:  2016-09-16

Review 10.  Lysosomal peptidases-intriguing roles in cancer progression and neurodegeneration.

Authors:  Janko Kos; Ana Mitrović; Milica Perišić Nanut; Anja Pišlar
Journal:  FEBS Open Bio       Date:  2022-02-03       Impact factor: 2.693
  10 in total

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