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Deciphering the tubulin language: Molecular determinants and readout mechanisms of the tubulin code in neurons
Microtubules (MTs) are dynamic components of the cell cytoskeleton involved in several
cellular functions, such as structural support, migration and intracellular trafficking. Despite …
cellular functions, such as structural support, migration and intracellular trafficking. Despite …
Dystonia genes and their biological pathways
High-throughput sequencing has been instrumental in uncovering the spectrum of
pathogenic genetic alterations that contribute to the etiology of dystonia. Despite the …
pathogenic genetic alterations that contribute to the etiology of dystonia. Despite the …
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Purpose Prior studies investigating the genetic architecture of pediatric motor speech
disorders (MSDs) have been limited by small sample sizes and an exclusive focus on …
disorders (MSDs) have been limited by small sample sizes and an exclusive focus on …
Hypomyelinating leukodystrophy and movement disorders
Hypomyelinating leukodystrophies (HLDs) are a heterogeneous group of disorders caused
by primary deficit in myelin development; they are radiologically characterized by mild T2 …
by primary deficit in myelin development; they are radiologically characterized by mild T2 …
Developmental regression with early feeding difficulties and characteristic neuroimaging features of H‐ABC in an infant from a TUBB4A genetic variant.
B Charles‐Britton, YL Leong, D Clark… - … of Paediatrics & …, 2023 - search.ebscohost.com
This article discusses a case report of an infant with developmental regression and early
feeding difficulties, which were found to be caused by a genetic variant in the TUBB4A gene …
feeding difficulties, which were found to be caused by a genetic variant in the TUBB4A gene …
Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India
Background Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A),
Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic …
Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic …
[HTML][HTML] Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing
M Thomsen, F Ott, S Loens, G Kilic-Berkmen… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Dystonia is one of the most prevalent movement disorders, characterized by significant
clinical and etiological heterogeneity. Despite considerable heritability (∼ 25%) and the …
clinical and etiological heterogeneity. Despite considerable heritability (∼ 25%) and the …
DYT-TUBB4A: first family from India with the Arg2Gly mutation
DYT‑TUBB4A, formerly known as DYT‑4, was first reported by Parker et al. in 1985,[1] and
was termed 'whispering dysphonia'due to laryngeal dystonia. It occurs due to mutations in …
was termed 'whispering dysphonia'due to laryngeal dystonia. It occurs due to mutations in …
Isolated and combined dystonias: Update
Dystonia is a hyperkinetic movement disorder with a unique motor phenomenology that can
manifest as an isolated clinical syndrome or combined with other neurological features. This …
manifest as an isolated clinical syndrome or combined with other neurological features. This …
Exploring next generation sequencing in the diagnosis of inherited ataxia and other neurological diseases
J Hersheson - 2024 - discovery.ucl.ac.uk
Neurodegenerative diseases are a complex and heterogeneous group of disorders
characterised by progressive loss of cells from the central nervous system which can result …
characterised by progressive loss of cells from the central nervous system which can result …