Results 131 to 140 of about 84,970 (256)

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Brain Folding Trajectories in Amyotrophic Lateral Sclerosis. [PDF]

Hum Brain Mapp
Shafie M, Tamba C, Bhinder H, Canadian ALS Neuroimaging Consortium (CALSNIC), Kalra S, Pizzagalli F.   +5 more
europepmc   +1 more source

Late INa as a Therapeutic Target: New Strategies, Computational Modelling, Drug Development, and Clinical Translation

Medicinal Research Reviews, EarlyView.
ABSTRACT The Nav1.5 channel, a major isoform of voltage‐gated sodium ion channel, is mainly found in ventricular cardiomyocytes, playing a key role in generating essential cardiac action potentials for normal heart rhythms. Mutations in Nav1.5 have been associated with severe heart conditions such as long QT syndrome, Brugada syndrome, cardiac ...
Arkapravo Chattopadhyay, Lynn C. Lunsonga, Peter E. Light, Khaled Barakat   +3 more
wiley   +1 more source

New Hopes and Challenges for Treatment of Neurodegenerative Disorders: Great Opportunities for Young Neuroscientists

Basic and Clinical Neuroscience, 2013
Mahmoud Kiaei
doaj  

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile. [PDF]

BMJ Open
Henders AK, Ziser L, Garton FC, Adams L, Ernst K, Furlong S, Heads JA, Heggie S, Krasniqi R, Bhadravathi Lokeshappa M, Mazumder S, McNamara E, MacShane A, Mekhael L, Nunn L, Orden B, Ryder J, Thorpe K, Toubia M, Wallace LM, Wickremeratne D, Windebank E, Benyamin B, Ngo S, Nicholson G, Pamphlett R, Steyn FJ, Visscher PM, Willams KL, Henderson R, Kiernan MC, Laing N, Mathers S, McCombe PA, Needham M, Rowe D, Schultz D, Talman P, Vucic S, Blair IP, McRae AF, Wray NR.   +41 more
europepmc   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

SOD1 amyotrophic lateral sclerosis associated with Neurosarcoidosis: a case report and review of the literature. [PDF]

Oxf Med Case Reports
AlSabah AA, Reda H.
europepmc   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Correction: Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis. [PDF]

Mol Neurodegener
Pasetto L, Callegaro S, Corbelli A, Fiordaliso F, Ferrara D, Brunelli L, Sestito G, Pastorelli R, Bianchi E, Cretich M, Chiari M, Potrich C, Moglia C, Corbo M, Sorarù G, Lunetta C, Calvo A, Chiò A, Mora G, Pennuto M, Quattrone A, Rinaldi F, D'Agostino VG, Basso M, Bonetto V.   +24 more
europepmc   +1 more source