Results 261 to 270 of about 1,723,083 (327)

Molecular genetics as evidence of environmental harm in ecocriminological analysis. [PDF]

Open Res Eur
Morelle-Hungría E.
europepmc   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
Martens J, Engelke UFH, Wevers RA, Lefeber DJ, Kulkarni P.   +4 more
europepmc   +1 more source

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato, Takayuki Abe, Sho Aoki, Setsuki Tsukagoshi, Yasushi Yuminaka, Yoshio Ikeda   +5 more
wiley   +1 more source

Comprehensive review of understanding ancient dietary habits using modern analytical techniques. [PDF]

Food Chem (Oxf)
Ramadan NS, El-Sayed MM, Ramadan HS, Ismail M, Abdelmegeed H, Gaber N, Sakr MM.   +6 more
europepmc   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

Marigold breeding in India: a comprehensive review of genetic advances, techniques and future prospects. [PDF]

Front Plant Sci
D V, S RK.
europepmc   +1 more source

Study of genetic variation in Staphylococcus aureus strains isolated from clinical specimens by RAPD-PCR Technique

, 2020
Baroomand Morvaridi, Shahram Nakhjavan, Shahram Nanekarani, Reza Yari   +3 more
openalex   +1 more source

Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano   +7 more
wiley   +1 more source

Editorial: Genomic insights into sheep and goat breeding efficiency. [PDF]

Front Vet Sci
Hao F, Peng M, Xu Z, Zhang X, Wang J, Ding R.   +5 more
europepmc   +1 more source