Results 171 to 180 of about 2,700,197 (262)

Pleiotrophin/Midkine Pathway Is Dysregulated in a TDP-43^A315T Mouse Model of Amyotrophic Lateral Sclerosis (ALS). [PDF]

Neuropathology
Martínez-Alesón P, Benito-Casado C, Fernández-Martos CM, Polanco Mora MJ.   +3 more
europepmc   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
Spedding M.
europepmc   +1 more source

Inhibition of Ornithine Decarboxylase 1 Mitigates Denervation‐Induced Muscle Atrophy by Suppressing Proteolysis and Preserving Muscle Stem Cell Homeostasis

Cell Proliferation, EarlyView.
Polyamine metabolism is innervation responsive and involved in denervation‐induced muscle atrophy. Inhibition of polyamine metabolism attenuates muscle atrophy by restraining proteolysis and preserving MuSCs homeostasis. Denervation‐induced activation of FAP‐derived FGF7 drives premature MuSCs activation, while DFMO suppresses this paracrine cue to ...
Mingming Zhang, Feifan Chang, Siliang Ge, Fuming Cao, Pincong Fu, Haobo Zhang, Ming Chen, Yi Li, Peifu Tang, Pengbin Yin   +9 more
wiley   +1 more source

Elevated serum trimethylamine N-oxide (TMAO) and trimethyllysine in patients with amyotrophic lateral sclerosis (ALS): An exploratory case-control study. [PDF]

IBRO Neurosci Rep
Sotgia S, Zinellu A, Zoroddu S, Pateri MI, Loi E, Pisano A, Sabalic A, Tutedde D, Vega-Benedetti AF, Floris F, Puligheddu M, Valera P, Zavattari P, Borghero G, Madeddu R.   +14 more
europepmc   +1 more source

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

My Amyotrophic Lateral Sclerosis (ALS) Journey from Weakness to Diagnosis: A Journey of Hope. [PDF]

Healthcare (Basel)
Wityshyn S, Sanghai N, Tranmer GK.
europepmc   +1 more source

Chronic Non‐Progressive Neurophysiology in an ALS Patient Treated With Tofersen for 6 Years

Muscle &Nerve, EarlyView.
Ivar Winroth, Christian Krarup, Henrik Berntsson, Lisette Salvesen, Kirsten Svenstrup, Erik Nordh, Peter M. Andersen   +6 more
wiley   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study. [PDF]

Neurol Res Pract
Tzeplaeff L, Galhoz A, Meijs C, Caldi Gomes L, Kovac A, Menzel A, Değirmenci H, Alaamel A, Kaya HC, Çelik AG, Dinçer S, Korucuk M, Karaüzüm SB, Bayraktar E, Çiftçi V, Bilge U, Koç F, Demleitner AF, Buchberger A, von Heynitz R, Gmeiner V, Knellwolf C, Mouzouri M, Wuu J, Başak AN, Andersen PM, Kohlmayer F, Ashton NJ, Kuban W, Lenz C, Rogers ML, Zilka N, Corcia P, Lerner Y, Weber M, Turcanova Koprusakova M, Uysal H, Benatar M, Menden MP, Lingor P.   +39 more
europepmc   +2 more sources