Results 171 to 180 of about 18,565 (309)

Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies. [PDF]

Epigenomes
Zaruha AG, Codreanu P, Coman MC, Novac Ii MA, Duță-Ion SG, Jugănaru IR, Hotinceanu IA, Dan A, Burtavel LM, Eftenoiu AE, Bârcă D, Ionescu A, Paraschiv C, Rădoi VE.   +13 more
europepmc   +1 more source

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies [PDF]

, 2018
Thio, Liu Lin, Weisenberg, Judith
core   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

New-Onset Complex Partial Seizures Progressing to Intractable Epilepsy in a Young Female With Bifrontal Encephalomalacia and a Remote History of Traumatic Brain Injury. [PDF]

Clin Case Rep
Villegas KJ, Sorathia A, Salib M, Escobar J, Conroy N.   +4 more
europepmc   +1 more source

Auditory Hyperresponsivity in Chronic Back Pain: A Randomized Controlled Trial of Pain Reprocessing Therapy

Annals of Neurology, EarlyView.
Objective Heightened sensitivity to noxious stimulation is a hallmark of chronic pain. Emerging evidence suggests heightened unpleasantness to non‐noxious (eg, auditory) aversive stimulation also characterizes chronic pain, but its magnitude, neural mechanisms, and treatment modifiability remain unknown.
Alina E. C. Panzel, Christian Büchel, Andrew Leroux, Tor D. Wager, Yoni K. Ashar   +4 more
wiley   +1 more source

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study

Annals of Neurology, EarlyView.
Objective Lactate is increasingly recognized as an energy substrate, but its relevance to amyotrophic lateral sclerosis (ALS) remains unclear. We examined whether blood lactate is associated with survival and weight loss in ALS. Methods This retrospective study included an Australian exploratory cohort and a Japanese validation cohort with clinical ...
Ryutaro Nakamura, Frederik J. Steyn, Shuhei Kobashi, Nobuhiro Ogawa, Akihiro Kitamura, Isamu Yamakawa, Robert D. Henderson, Shyuan T. Ngo, Makoto Urushitani   +8 more
wiley   +1 more source

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Lillis KP.
europepmc   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Clinical Trials Examining Deep Brain Stimulation for the Treatment of Epilepsy: An Analysis of the Current State. [PDF]

Cureus
Gould J, Patel S, Chaurasia B.
europepmc   +1 more source

Astrocytic Mitochondria Transplantation Rescues Neuron Loss and Dendritic Injuries in Acute Cerebral Ischemic Stroke Mouse Model by Flexibly Regulating Mitochondria Dynamics

Annals of Neurology, EarlyView.
Objective Cerebral ischemic stroke causes neuronal oxygen/energy deprivation, disrupting mitochondrial function including reduced membrane potential and bioenergetics, exacerbating neuronal injury. Mitochondrial defects are, therefore, a central neuropathological node and potential therapeutic target.
Ning Bian, Jianing Shen, Linwei Tian, Jinghui Li, Lu Yang, Bo Yuan, Shulin Li, Yuyu Niu, Lu Zhao, Jingkuan Wei   +9 more
wiley   +1 more source