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 …

Autophagic lysosome reformation in health and disease

R Nanayakkara, R Gurung, SJ Rodgers, MJ Eramo… - Autophagy, 2023 - Taylor & Francis
Lysosomes are the primary degradative compartment within cells and there have been
significant advances over the past decade toward understanding how lysosome …

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

S Salinas, C Proukakis, A Crosby… - The Lancet Neurology, 2008 - thelancet.com
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative disorders in which the most severely affected neurons are those of the …

[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 …

Genetics of amyotrophic lateral sclerosis

M Ghasemi, RH Brown - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disorder
of motor neurons that overlaps clinically with frontotemporal dementia (FTD). Investigations …

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 …

Genetics of amyotrophic lateral sclerosis: an update

S Chen, P Sayana, X Zhang, W Le - Molecular neurodegeneration, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving
both upper motor neurons (UMN) and lower motor neurons (LMN). Enormous research has …

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 …

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou… - Brain, 2016 - academic.oup.com
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …

Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …