Results 101 to 110 of about 14,543 (225)

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72

Journal of Central Nervous System Disease, 2015
Background Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72 ) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and ...
Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh   +8 more
doaj   +1 more source

Mini social cognition and emotional assessment: Diagnostic performance and neural correlates in behavioural‐variant frontotemporal dementia

Journal of Neuropsychology, EarlyView.
Abstract We aimed at validating the Mini Social Cognition and Emotional Assessment (Mini‐SEA) in a German cohort of mildly impaired behavioural‐variant frontotemporal dementia (bvFTD) patients and healthy controls. The Mini‐SEA comprises the Facial Emotion Recognition Test (FERT) and the Faux Pas Test (FPT) measuring Theory of Mind (ToM) abilities in ...
Cem Doğdu, Neeraj Upadhyay, Ingo Frommann, Luca Kleineidam, Andreas Johnen, Melina Stark, Sandra Roeske, Annika Spottke, Anna Gamez, Gabor C. Petzold, Louise Droste zu Senden, Julian Hellmann‐Regen, Stefan Hetzer, Klaus Fliessbach, Carolin Miklitz, Emrah Düzel, Falk Lüsebrink, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Josef Priller, Eike Jakob Spruth, Johannes Prudlo, David Mengel, Klaus Scheffler, Matthis Synofzik, Anja Schneider, Michael Wagner   +27 more
wiley   +1 more source

Additional file 1: of C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers [PDF]

, 2016
Supplementary Data. Figure S1: Definition of TSSs at the C9orf72 locus; Figure S2: C9orf72 expression changes in challenged CD14+ monocytes. Figure S3: Distinct TSSs expression at C9orf72 locus in CNS, myeloid and lymphoid cells.
Peter Heutink (39587), Sasja Heetveld (3424019), Melissa Castillo-Lizardo (3424034), Elwira Pyz (3424025), Cornelis Blauwendraat (3424022), Patrizia Rizzu (260324), Javier Simรณn-Sรกnchez (3424028), Markus Hobert (328681), Emily Lynes (3424013), Ashutosh Dhingra (3424031), Matthis Synofzik (276961), Margherita Francescatto (3424016)   +11 more
core   +1 more source

The Flail Limb Syndrome

Muscle &Nerve, Volume 74, Issue 2, Page 281-292, August 2026.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley   +1 more source

The Association between C9orf72 Repeats and Risk of Alzheimer’s Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis

Parkinson's Disease, 2016
C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasian populations. However, the relationship between C9orf72 repeats and Alzheimer’s disease (AD) was not clear.
Li Shu, Qiying Sun, Yuan Zhang, Qian Xu, Jifeng Guo, Xinxiang Yan, Beisha Tang   +6 more
doaj   +1 more source

Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
ABSTRACT Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal neurodegenerative disease primarily affecting motor neurons. Two key protein inclusions found in lower motor neurons serve as neuropathological hallmarks of the disease in human tissue: the TDP43‐positive inclusion and the cystatin C‐positive Bunina body.
Sarah M. Granger, Rosemary A. Staniforth, Asbjorg Osk Snorradottir, Johnathan Cooper‐Knock, Kurt J. De Vos, J. Robin Highley   +5 more
wiley   +1 more source

The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort [version 1; peer review: 2 approved]

HRB Open Research, 2019
Introduction: The C9orf72 hexanucleotide repeat expansion is causal in amyotrophic lateral sclerosis (ALS) and has a negative effect on prognosis. The C9orf72 repeat expansion has been associated with an accelerated deterioration of respiratory function ...
James Rooney, Deirdre Murray, Anna Campion, Hannah Moloney, Rachel Tattersall, Mark Doherty, Michaela Hammond, Mark Heverin, Russell McLaughlin, Orla Hardiman   +9 more
doaj   +1 more source

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Molecular Neurodegeneration, 2020
Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk   +15 more
doaj   +1 more source

Frontotemporal Lobar Degeneration‐TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
We report an autopsy case of frontotemporal lobar degeneration (FTLD)‐TDP type C with severe striatal involvement and annexin A11‐ and phosphorylated TDP‐43‐positive glial cytoplasmic inclusions. The patient developed progressive asymmetric rigidity accompanied by marked striatal atrophy and showed both upper and lower motor neuron involvement.
Akiko Uchino, Kazutomi Kanemaru, Airi Tarutani, Masato Hasegawa, Hiroya Naruse, Hiroyuki Ishiura, Shigeo Murayama, Yuko Saito   +7 more
wiley   +1 more source