Results 131 to 140 of about 5,810,137 (395)
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
NATURAL MUTATIONS IN INBRED LINES OF MAIZE AND THEIR HETEROTIC EFFECT. I. COMPARISON OF PARENT, MUTANT AND THEIR F1 HYBRID IN A HIGHLY INBRED BACKGROUND [PDF]
, 1954 Josef F Schuler
openalex +1 more source
Rethinking Visitation: From a Parental to a Relational Right [PDF]
, 2009 [...] visitation rights are considered to arise from the very fact of parenthood, so that parents are entitled to this right simply by being legally recognized as parents.
Blecher-Prigat, Ayelet
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Developing effective partnerships in reporting student achievement : making links between educative theory and schools reporting practices : a thesis presented as partial fulfilment of the requirements for the degree of Master of Educational Administration, Massey University, Albany [PDF]
, 2003 This thesis examines how three participant schools reported the achievement of students to parents and the extent to which reporting practices reflected current educative theories and effective partnership.
Taylor, Kerry
core
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
BMC Public HealthObjective To explore the impact on Taiwanese parents and children following an outbreak of the Omicron variant during the COVID-19 pandemic. Methods Data were collected following class cancellations mandated by the Ministry of Education due to an ...
Kuo-Yu Chao +3 more
doaj +1 more source
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre +152 more
wiley +1 more source