Literature DB >> 28000352

A new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia.

I Faber1, J R M Prota2, A R M Martinez1, I Lopes-Cendes2, M C França1.   

Abstract

Entities:  

Keywords:  zzm321990zzm321990GRNzzm321990zzm321990; ataxia; ceroid neuronal lipofuscinosis; frontotemporal dementia; hereditary spastic paraplegia; progranulin; spastic ataxia

Year:  2017        PMID： 28000352     DOI： 10.1111/ene.13194

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  6 in total

Review 1.  Importance of lipids for upper motor neuron health and disease.

Authors:  Aksu Gunay; Heather H Shin; Oge Gozutok; Mukesh Gautam; P Hande Ozdinler
Journal:  Semin Cell Dev Biol       Date:  2020-12-13       Impact factor: 7.727

Review 2.  Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Jessica Root; Paola Merino; Austin Nuckols; Michelle Johnson; Thomas Kukar
Journal:  Neurobiol Dis       Date:  2021-03-31       Impact factor: 7.046

3.  SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Authors:  Ingrid Faber; Alberto Rolim Muro Martinez; Thiago Junqueira Ribeiro de Rezende; Carlos Roberto Martins; Melina Pazian Martins; Charles Marques Lourenço; Wilson Marques; Celeste Montecchiani; Antonio Orlacchio; Jose Luiz Pedroso; Orlando Graziani Povoas Barsottini; Íscia Lopes-Cendes; Marcondes Cavalcante França
Journal:  Neuroimage Clin       Date:  2018-06-09       Impact factor: 4.881

Review 4.  Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Authors:  Guillermo Guelbert; Ana Clara Venier; Ines Adriana Cismondi; Adriana Becerra; Juan Carlos Vazquez; Elmer Andrés Fernández; Ana Lucía De Paul; Norberto Guelbert; Ines Noher; Favio Pesaola
Journal:  Front Neurol       Date:  2022-08-12       Impact factor: 4.086

5.  Chemical and genetic rescue of in vivo progranulin-deficient lysosomal and autophagic defects.

Authors:  James J Doyle; Claudia Maios; Céline Vrancx; Sarah Duhaime; Babykumari Chitramuthu; Hugh P J Bennett; Andrew Bateman; J Alex Parker
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-22       Impact factor: 11.205

6.  Elevated levels of extracellular vesicles in progranulin-deficient mice and FTD-GRN Patients.

Authors:  Andrew E Arrant; Skylar E Davis; Rachael M Vollmer; Charles F Murchison; James A Mobley; Alissa L Nana; Salvatore Spina; Lea T Grinberg; Anna M Karydas; Bruce L Miller; William W Seeley; Erik D Roberson
Journal:  Ann Clin Transl Neurol       Date:  2020-11-16       Impact factor: 5.430
  6 in total

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