Motor neuron disease articles within Scientific Reports

Featured

• Article
  26 March 2024 | Open Access

  Timing and impact of percutaneous endoscopic gastrostomy insertion in patients with amyotrophic lateral sclerosis: a comprehensive analysis

  • Bugyeong Son
  • , Jisu Lee
  •  & Seung Hyun Kim

• Article
  19 March 2024 | Open Access

  Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy

  • Hanna Sophie Lapp
  • , Maren Freigang
  •  & René Günther

• Article
  11 March 2024 | Open Access

  Evidence for disrupted copper availability in human spinal cord supports Cu^II(atsm) as a treatment option for sporadic cases of ALS

  • James B. W. Hilton
  • , Kai Kysenius
  •  & Peter J. Crouch

• Article
  20 December 2023 | Open Access

  Reconstitution of C9orf72 GGGGCC repeat-associated non-AUG translation with purified human translation factors

  • Hayato Ito
  • , Kodai Machida
  •  & Hideki Taguchi

• Article
  24 November 2023 | Open Access

  Accurate personalized survival prediction for amyotrophic lateral sclerosis patients

  • Li-Hao Kuan
  • , Pedram Parnianpour
  •  & Russell Greiner

• Article
  10 November 2023 | Open Access

  Cystatin C based estimation of chronic kidney disease and amyotrophic lateral sclerosis in the ALS registry Swabia: associated risk and prognostic value

  • Gabriele Nagel
  • , Deborah Kurz
  •  & Dietrich Rothenbacher

• Article
  24 August 2023 | Open Access

  Fully automated F-wave corridor extraction and analysis algorithm for F-wave analyses and MUNE studies

  • N. Tuğrul Artuğ

• Article
  23 August 2023 | Open Access

  miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis

  • Jack Cheng
  • , Wen-Kuang Ho
  •  & Wei-Yong Lin

• Article
  17 April 2023 | Open Access

  Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy

  • Olivia Schreiber-Katz
  • , Hannah Alexandra Siegler
  •  & Alma Osmanovic

• Article
  12 April 2023 | Open Access

  Mutant and curli-producing E. coli enhance the disease phenotype in a hSOD1-G93A mouse model of ALS

  • Zimple Kurlawala
  • , Joseph D. McMillan
  •  & Robert P. Friedland

• Article
  09 March 2023 | Open Access

  Motor unit number index (MUNIX) loss of 50% occurs in half the time of 50% functional loss according to the D50 disease progression model of ALS

  • Theresa Ebersbach
  • , Annekathrin Roediger
  •  & Julian Grosskreutz

• Article
  21 December 2022 | Open Access

  Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

  • Tobias Lindig
  • , Benjamin Bender
  •  & Tim W. Rattay

• Article
  09 December 2022 | Open Access

  Molecular basis of C9orf72 poly-PR interference with the β-karyopherin family of nuclear transport receptors

  • Hamidreza Jafarinia
  • , Erik Van der Giessen
  •  & Patrick R. Onck

• Article
  08 November 2022 | Open Access

  A link between agrin signalling and Ca_v3.2 at the neuromuscular junction in spinal muscular atrophy

  • Perrine Delers
  • , Delphine Sapaly
  •  & Suzie Lefebvre

• Article
  31 October 2022 | Open Access

  Hereditary spastic paraplegia SPG13 mutation increases structural stability and ATPase activity of human mitochondrial chaperonin

  • Lingling Chen
  • , Aiza Syed
  •  & Adhitya Balaji

• Article
  11 October 2022 | Open Access

  A novel assessment of fine-motor function reveals early hindlimb and detectable forelimb deficits in an experimental model of ALS

  • C. Sahara Khademullah
  •  & Yves De Koninck

• Article
  03 October 2022 | Open Access

  Optimized multi-echo gradient-echo magnetic resonance imaging for gray and white matter segmentation in the lumbosacral cord at 3 T

  • Silvan Büeler
  • , Marios C. Yiannakas
  •  & Gergely David

• Article
  30 August 2022 | Open Access

  A new method for estimating under-recruitment of a patient registry: a case study with the Ohio Registry of Amyotrophic Lateral Sclerosis

  • Meifang Li
  • , Xun Shi
  •  & Walter G. Bradley

• Article
  30 August 2022 | Open Access

  Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

  • Frances Theunissen
  • , Ryan S. Anderton
  •  & P. Anthony Akkari

• Article
  25 July 2022 | Open Access

  Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation

  • Masanori Sawamura
  • , Keiko Imamura
  •  & Ryosuke Takahashi

• Article
  01 June 2022 | Open Access

  Plasma taurine is an axonal excitability-translatable biomarker for amyotrophic lateral sclerosis

  • Tomoko Nakazato
  • , Kazuaki Kanai
  •  & Shinji Saiki

• Article
  14 May 2022 | Open Access

  TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2

  • Naohiro Egawa
  • , Yuishin Izumi
  •  & Haruhisa Inoue

• Article
  04 April 2022 | Open Access

  A mouse model with widespread expression of the C9orf72-linked glycine–arginine dipeptide displays non-lethal ALS/FTD-like phenotypes

  • Brandie Morris Verdone
  • , Maria Elena Cicardi
  •  & Davide Trotti

• Article
  30 March 2022 | Open Access

  NU-9 improves health of hSOD1^G93A mouse upper motor neurons in vitro, especially in combination with riluzole or edaravone

  • Barış Genç
  • , Mukesh Gautam
  •  & P. Hande Ozdinler

• Article
  11 March 2022 | Open Access

  Mitochondrial dysregulation occurs early in ALS motor cortex with TDP-43 pathology and suggests maintaining NAD⁺ balance as a therapeutic strategy

  • Mukesh Gautam
  • , Aksu Gunay
  •  & P. Hande Ozdinler

• Article
  15 February 2022 | Open Access

  Association between type 2 diabetes and amyotrophic lateral sclerosis

  • Linjing Zhang
  • , Lu Tang
  •  & Dongsheng Fan

• Article
  07 January 2022 | Open Access

  SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

  • Mariusz Berdyński
  • , Przemysław Miszta
  •  & Magdalena Kuźma-Kozakiewicz

• Article
  01 December 2021 | Open Access

  The effects of molecular crowding and CpG hypermethylation on DNA G-quadruplexes formed by the C9orf72 nucleotide repeat expansion

  • Kadir. A. Ozcan
  • , Layla T. Ghaffari
  •  & Aaron R. Haeusler

• Article
  11 November 2021 | Open Access

  Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

  • Arvin Behzadi
  • , Fani Pujol-Calderón
  •  & Peter Munch Andersen

• Article
  07 October 2021 | Open Access

  Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

  • François Boemer
  • , Jean-Hubert Caberg
  •  & Laurent Servais

• Article
  09 September 2021 | Open Access

  Prognostic prediction by hypermetabolism varies depending on the nutritional status in early amyotrophic lateral sclerosis

  • Ryutaro Nakamura
  • , Mika Kurihara
  •  & Makoto Urushitani

• Article
  02 September 2021 | Open Access

  Protein disulphide isomerase (PDI) is protective against amyotrophic lateral sclerosis (ALS)-related mutant Fused in Sarcoma (FUS) in in vitro models

  • S. Parakh
  • , E. R. Perri
  •  & J. D. Atkin

• Article
  12 August 2021 | Open Access

  Clearance of peripheral nerve misfolded mutant protein by infiltrated macrophages correlates with motor neuron disease progression

  • Wataru Shiraishi
  • , Ryo Yamasaki
  •  & Jun-ichi Kira

• Article
  12 July 2021 | Open Access

  A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex

  • Ashley R. Jones
  • , Alfredo Iacoangeli
  •  & Ammar Al-Chalabi

• Article
  30 June 2021 | Open Access

  Lipidomics study of plasma from patients suggest that ALS and PLS are part of a continuum of motor neuron disorders

  • Estela Area-Gomez
  • , D. Larrea
  •  & H. Mitsumoto

• Article
  10 June 2021 | Open Access

  Prediction of caregiver quality of life in amyotrophic lateral sclerosis using explainable machine learning

  • Anna Markella Antoniadi
  • , Miriam Galvin
  •  & Catherine Mooney

• Article
  09 June 2021 | Open Access

  The neural economics of brain aging

  • Jacob Kosyakovsky

• Article
  26 May 2021 | Open Access

  Oxaloacetate treatment preserves motor function in SOD1^G93A mice and normalizes select neuroinflammation-related parameters in the spinal cord

  • Sudheer K. Tungtur
  • , Heather M. Wilkins
  •  & Hiroshi Nishimune

• Article
  13 May 2021 | Open Access

  Profilin2 regulates actin rod assembly in neuronal cells

  • Lisa Marie Walter
  • , Sebastian Rademacher
  •  & Peter Claus

• Article
  26 January 2021 | Open Access

  Motor cortical excitability predicts cognitive phenotypes in amyotrophic lateral sclerosis

  • Smriti Agarwal
  • , Elizabeth Highton-Williamson
  •  & Matthew C. Kiernan

• Article
  22 January 2021 | Open Access

  A directional 3D neurite outgrowth model for studying motor axon biology and disease

  • Xandor M. Spijkers
  • , Svetlana Pasteuning-Vuhman
  •  & R. Jeroen Pasterkamp

• Article
  18 January 2021 | Open Access

  Role of miRNAs shuttled by mesenchymal stem cell-derived small extracellular vesicles in modulating neuroinflammation

  • Debora Giunti
  • , Chiara Marini
  •  & Antonio Uccelli

• Article
  17 December 2020 | Open Access

  Analysis of mutant and total huntingtin expression in Huntington’s disease murine models

  • Valentina Fodale
  • , Roberta Pintauro
  •  & Alberto Bresciani

• Article
  26 November 2020 | Open Access

  Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay

  • Claire Guissart
  • , Kevin Mouzat
  •  & Serge Lumbroso

• Article
  07 October 2020 | Open Access

  Wnt antagonist FRZB is a muscle biomarker of denervation atrophy in amyotrophic lateral sclerosis

  • Thaddaeus Kwan
  • , Mohamed Kazamel
  •  & Peter H. King

• Article
  24 September 2020 | Open Access

  Inducible EphA4 knockout causes motor deficits in young mice and is not protective in the SOD1^G93A mouse model of ALS

  • Sara L. Dominguez
  • , Timothy Earr
  •  & Jesse E. Hanson

• Article
  24 September 2020 | Open Access

  Dissociated leg muscle atrophy in amyotrophic lateral sclerosis/motor neuron disease: the ‘split-leg’ sign

  • Young Gi Min
  • , Seok-Jin Choi
  •  & Jung-Joon Sung

• Article
  24 September 2020 | Open Access

  Dysregulation of metabolic pathways by carnitine palmitoyl-transferase 1 plays a key role in central nervous system disorders: experimental evidence based on animal models

  • Michael Sloth Trabjerg
  • , Anne Skøttrup Mørkholt
  •  & John Dirk Vestergaard Nieland

• Article
  15 September 2020 | Open Access

  Predictive factors for prognosis after gastrostomy placement in routine non-invasive ventilation users ALS patients

  • Adèle Hesters
  • , Maria del Mar Amador
  •  & Gaëlle Bruneteau

• Article
  08 September 2020 | Open Access

  The effectiveness of nonsteroidal anti-inflammatory drugs and acetaminophen in reduce the risk of amyotrophic lateral sclerosis? A meta-analysis

  • Min Cheol Chang
  • , Sang Gyu Kwak
  •  & Donghwi Park