Cerebral palsy—trends in epidemiology and recent development in prenatal mechanisms of disease, treatment, and prevention

M Stavsky, O Mor, SA Mastrolia, S Greenbaum… - Frontiers in …, 2017 - frontiersin.org
Cerebral palsy (CP) is the most common motor disability in childhood. This syndrome is the
manifestation of intrauterine pathologies, intrapartum complications, and the postnatal …

[HTML][HTML] Cerebral palsy: causes, pathways, and the role of genetic variants

AH MacLennan, SC Thompson, J Gecz - American journal of obstetrics and …, 2015 - Elsevier
Cerebral palsy (CP) is heterogeneous with different clinical types, comorbidities, brain
imaging patterns, causes, and now also heterogeneous underlying genetic variants. Few …

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif… - autophagy, 2021 - Taylor & Francis
In 2008, we published the first set of guidelines for standardizing research in autophagy.
Since then, this topic has received increasing attention, and many scientists have entered …

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

JC Bis, X Jian, BW Kunkle, Y Chen… - Molecular …, 2020 - nature.com
Abstract The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome
sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal …

N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force

C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

JK Fink - Acta neuropathologica, 2013 - Springer
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

Hereditary spastic paraplegia: clinical and genetic hallmarks

PVS de Souza, WBV de Rezende Pinto… - The Cerebellum, 2017 - Springer
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

The genetic basis of cerebral palsy

MC Fahey, AH Maclennan… - … Medicine & Child …, 2017 - Wiley Online Library
Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the
pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack …

Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview

LEO Elsayed, IZ Eltazi, AE Ahmed… - Frontiers in Molecular …, 2021 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …