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SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE

Known as: SPG7 
National Institutes of Health

Related topics

Related topics

18 relations
Abnormal pyramidal signsAutosomal dominant inheritanceAutosomal recessive inheritanceCerebellar atrophy

Broader (1)

Spastic Paraplegia, Hereditary

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
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2018
2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of… 
Review
2016
Review
2016
Movement disorders in mitochondrial diseases.
Review
2016
Review
2016
The Dual Function of Reactive Oxygen/Nitrogen Species in Bioenergetics and Cell Death: The Role of ATP Synthase
Reactive oxygen species (ROS) and reactive nitrogen species (RNS) targeting mitochondria are major causative factors in disease… 
2016
2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential… 
Highly Cited
2014
Highly Cited
2014
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at… 
2013
2013
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
Molecular characterization is important for an accurate diagnosis in hereditary spastic paraplegia (HSP). Mutations in the gene… 
2010
2010
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease
BackgroundThe m-AAA (A TPases A ssociated with a variety of cellular A ctivities) is an evolutionary conserved metalloprotease… 
Highly Cited
2007
Highly Cited
2007
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder… 
Highly Cited
2004
Highly Cited
2004
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive… 
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