Molecular Medicine Successes in Neuroscience [PDF]
Bernhard Schaller +2 more
openalex +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
MOLECULAR GENETIC NEUROSCIENCE. Edited by Francis O. Schmitt, Stephanie J. Bird and Floyd E. Bloom Published by Raven Press, New York. 492 pages. $92.50 Cdn. approx. [PDF]
Oksana Suchowersky
openalex +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Ocular coloboma: a reassessment in the age of molecular neuroscience [PDF]
CY Gregory-Evans +3 more
openalex +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Change in Nutritional Status Modulates the Abundance of Critical Pre-initiation Intermediate Complexes During Translation Initiation \u3cem\u3ein Vivo\u3c/em\u3e [PDF]
In eukaryotic translation initiation, eIF2∙GTP–Met-tRNAiMet ternary complex (TC) interacts with eIF3–eIF1–eIF5 complex to form the multifactor complex (MFC), while eIF2∙GDP associates with eIF2B for guanine nucleotide exchange.
Anderson, James T. +8 more
core +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
Linking new information to a short-lasting memory trace induces consolidation in the hippocampus
Summary: Novelty often influences the retention of nearby weak and transient memory traces, yet its precise role in shaping long-term memory storage remains elusive.
Andressa Gabriela Soliani +4 more
doaj +1 more source
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
H. Willsey +3 more
semanticscholar +1 more source

