Results 131 to 140 of about 1,154 (251)

Upregulated PKM2 Protects Dopaminergic Neurons From Oxidative Damage Through Nrf2 Transactivation in an MPTP‐Induced Mouse Model of Parkinson's Disease

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
Oxidative stress induced by MPTP promotes hnRNP A1/A2–dependent alternative splicing toward PKM2 in dopaminergic neurons. Elevated PKM2 transactivates Nrf2, enhances antioxidant gene expression, and protects neurons from oxidative damage and degeneration.
Meng Mei, Qian‐qian Miao, Meng‐ke Li, Hao‐ran Wang, Jian‐hua Ding, Gang Hu, Yao Wei   +6 more
wiley   +1 more source

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study. [PDF]

Eur J Neurol
Bjelica B, Wohnrade C, Osmanovic A, Schreiber-Katz O, Koerner S, Kollewe K, Haeckl S, Freigang M, Cordts I, Becker B, Vogt C, Muhandes MT, Günther R, Deschauer M, Koch JC, Tuerk M, Regensburger M, Neuwirth C, Petri S.   +18 more
europepmc   +1 more source

Physiology, pathology and therapeutic potential of microglial triggering receptor expressed on myeloid cells 2 signalling: A narrative update

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
TREM2hi microglia and macrophages exert distinct roles in neurological diseases. Enhancing TREM2 signalling supports pathological protein or debris clearance and mitigates inflammation in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, demyelination disorders and stroke, whereas blocking TREM2 may alleviate tauopathy and ...
Zhe Kong, Libin Shen, Daqing Ma, Jinchao Hou   +3 more
wiley   +1 more source

Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study. [PDF]

BMC Musculoskelet Disord
Błauciak M, Ubysz J, Wieczorek M, Koszewicz M.   +3 more
europepmc   +1 more source

SMA: the best technical-relational nursing strategies to support paediatric patients and families. Literature review.

openBackground: L’Atrofia Muscolare Spinale, detta anche SMA, è una malattia genetica autosomica e recessiva. Appartiene al gruppo delle “malattie dei motoneuroni”, e come tale ne provoca la loro degenerazione, portando a debolezza e atrofia muscolare ...
BONAZZON, GIORGIA
core  

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program. [PDF]

Saudi Med J
Al-Jedai AH, Almudaiheem HY, Alaama TY, Alsaman ASS, Abdo Bashiri F, Almuhaizae MA, Alghamdi FA, Alsakran AA, Matter EAY, Ibrahim FZ.   +9 more
europepmc   +1 more source

Hirayama Disease in a Young Male: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Paudel S, Rokaha PS, Rokaha PS, Karki L, Thapa P.   +4 more
europepmc   +1 more source

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

Providing space in genetic counseling: Reflexive thematic analysis of long and short sessions across clinical specialties

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract The duration of genetic counseling (GC) sessions can vary significantly. However, which factors contribute to sessions being abbreviated or extended and how that affects quality of care has not been well studied. This study explored variability in long versus short GC patient care time, defined as time spent in the session with the patient ...
Emily Glanton, Deborah Cragun, Heather Zierhut   +2 more
wiley   +1 more source

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy. [PDF]

Metabolites
Paprocka J, Karpierz J, Hutny M, Hofman-Hutna J, Dobosz A.   +4 more
europepmc   +1 more source