Results 91 to 100 of about 129,011 (267)
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Decompositions and packings in truncated triangulations
Electronic Journal of Graph Theory and ApplicationsWe study decompositions and packings in truncated triangulations GT△ obtained from simple connected plane graphs G with minimum degree two. We show GT△ is a 3-connected cubic planar graph with at least 2|E(G)|² - 2|E(G)| + 1 perfect matchings, a Λ-factor,
Michael Muzheve
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Word-Formation Capabilities of Russian Colloquial Speech in the Multilingual Space of Modern Russia
Научный диалог, 2018 Hybrid new word formations recorded in the oral conversational speech of residents of the Volgograd region, caused by contacts with foreign people are analyzed in the article. The method of eco-linguistic monitoring is used.
M. V. Milovanova, E. V. Terentyeva
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Truncated Overlap Fermions [PDF]
Nuclear Physics B - Proceedings Supplements, 2000 LATTICE99(algorithms)
openaire +2 more sources
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin +11 more
wiley +1 more source
A morphophonological approach to clipping in English
Lexis: Journal in English Lexicology, 2009 In this paper, I will endeavor to define clipping, and see if there are any semantic differences between the multiplicity of terms: “shortening”, “clipping”, “truncations”, etc.
Denis Jamet
doaj +1 more source