Literature DB >> 32862270

Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

Lieselot Dedeene1,2,3,4,5, Evelien Van Schoor2,4,5, Simona Ospitalieri2, Alicja Ronisz2, Jochen H Weishaupt6, Markus Otto6, Albert C Ludolph6, Angelika Scheuerle7, Rik Vandenberghe8,9, Philip Van Damme4,5,8, Koen Poesen1,3, Dietmar Rudolf Thal10,11.   

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Year:  2020        PMID： 32862270     DOI： 10.1007/s00401-020-02216-9

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  23 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

2.  Comparison of the growth hormone, IGF-1 and insulin in cerebrospinal fluid and serum between patients with motor neuron disease and healthy controls.

Authors:  E Bilic; E Bilic; I Rudan; V Kusec; N Zurak; D Delimar; M Zagar
Journal:  Eur J Neurol       Date:  2006-12       Impact factor: 6.089

3.  An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.

Authors:  Lieselot Dedeene; Evelien Van Schoor; Valérie Race; Matthieu Moisse; Rik Vandenberghe; Koen Poesen; Philip Van Damme; Dietmar Rudolf Thal
Journal:  Acta Neuropathol       Date:  2019-03-27       Impact factor: 17.088

4.  Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease.

Authors:  Eduardo De Pablo-Fernandez; Robert Courtney; Janice L Holton; Thomas T Warner
Journal:  Mov Disord       Date:  2016-11-28       Impact factor: 10.338

5.  Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Authors:  Peter E A Ash; Kevin F Bieniek; Tania F Gendron; Thomas Caulfield; Wen-Lang Lin; Mariely Dejesus-Hernandez; Marka M van Blitterswijk; Karen Jansen-West; Joseph W Paul; Rosa Rademakers; Kevin B Boylan; Dennis W Dickson; Leonard Petrucelli
Journal:  Neuron       Date:  2013-02-12       Impact factor: 17.173

6.  Phosphorylated α-synuclein immunoreactivity in the posterior pituitary lobe.

Authors:  Taku Homma; Yoko Mochizuki; Toshio Mizutani
Journal:  Neuropathology       Date:  2011-11-14       Impact factor: 1.906

Review 7.  Neuroendocrinology of neurodegenerative diseases. Insights from transgenic mouse models.

Authors:  Jose-Luis González De Aguilar; Frédérique René; Luc Dupuis; Jean-Philippe Loeffler
Journal:  Neuroendocrinology       Date:  2003-11       Impact factor: 4.914

Review 8.  C9orf72-mediated ALS and FTD: multiple pathways to disease.

Authors:  Rubika Balendra; Adrian M Isaacs
Journal:  Nat Rev Neurol       Date:  2018-09       Impact factor: 42.937

9.  TDP-43 pathology in the basal forebrain and hypothalamus of patients with amyotrophic lateral sclerosis.

Authors:  Matthew D Cykowski; Hidehiro Takei; Paul E Schulz; Stanley H Appel; Suzanne Z Powell
Journal:  Acta Neuropathol Commun       Date:  2014-12-24       Impact factor: 7.801

10.  Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.

Authors:  Lieselot Dedeene; Evelien Van Schoor; Rik Vandenberghe; Philip Van Damme; Koen Poesen; Dietmar Rudolf Thal
Journal:  Acta Neuropathol Commun       Date:  2019-12-02       Impact factor: 7.801
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  2 in total

1.  Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis.

Authors:  Siyu Pan; Xinxuan Liu; Tianzi Liu; Zhongming Zhao; Yulin Dai; Yin-Ying Wang; Peilin Jia; Fan Liu
Journal:  Front Genet       Date:  2022-06-22       Impact factor: 4.772

Review 2.  The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD.

Authors:  Pegah Masrori; Jimmy Beckers; Helena Gossye; Philip Van Damme
Journal:  Mol Neurodegener       Date:  2022-03-18       Impact factor: 14.195
  2 in total

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