Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
ABO Rhesus phenotypic and allelic frequencies in blood donors in Oran
Journal de la Faculté de Médecine d'Oran, 2017 Introduction - The objective of this study is to estimate the phenotypic and gene frequencies of the ABO and Rhesus (D) systems in blood donors in Oran.
Tahar Deba +4 more
doaj
The effect of LGB gene polymorphism on milk productivity indicators of Kholmogorsky cows
RUDN Journal of Agronomy and Animal IndustriesIn modern breeding work, considerable attention is paid to genetic resources of cattle, genetic assessment of which, with proper crossbreeding and selection, can increase efficiency of the entire industry.
Natalya A. Khudyakova +2 more
doaj +1 more source
Genetic Analysis of ABO and Rh Blood Groups in Brahmin Population of Uttar Pradesh, India” [PDF]
, 2011 A series of glycoprotein and glycolipids on the red blood cell surface constitute blood group antigens. These are A, B, AB and O in ABO blood group system and Rh in rhesus blood group system. These antigens are genetically controlled.
Vandana V. Rai
core +1 more source
NAT2*7 Allele Is a Potential Risk Factor for Adult Brain Tumors in Taiwanese Population [PDF]
, 2008 H. Eugene Liu +4 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Single-base Discrimination Mediated by Proofreading Inert Allele Specific Primers [PDF]
, 2005 Linling Chen +3 more
openalex +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Autism-associated SNPs in the clock genes _npas2_, _per1_ and the homeobox gene _en2_ alter DNA sequences that show characteristics of microRNA genes. [PDF]
, 2008 Intronic single nucleotide polymorphisms (SNPs) in the clock genes _npas2_ and _per1_ and the homeobox gene _en2_ are reported to be associated with autism.
Brad Nicholas +3 more
core +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source