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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.
2019
2019
Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia
Abstract—Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders predominantly characterized… 
2019
2019
149 Optical coherence tomography in an irish SPG7 cohort
Reduction of retinal nerve fibre layer (RNFL) thickness has been reported in neurodegenerative conditions, including inherited… 
2019
2019
Ultrastructural Changes in Brain Stem Pathways in a Patient with Ataxia Associated with SPG7 Mutations (P1.8-006)
Objective: Though magnetic resonance imaging (MRI) is a powerful tool to assess many aspects of central nervous system anatomy… 
2018
2018
A Rare Case Of Early Onset Hereditary spastic paraplegia caused by AFG3L2 and SPG7 mutations
A male child born out of non consanguinous marraige with normal birth and developemental history till one and half year of age… 
2017
2017
Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
SPG21, also known as Mast Syndrome (MIM 248900), is an ultra-rare autosomal recessive complicated form of hereditary spastic… 
2017
2017
PO095 Utility of ataxia gene panel testing in irish inherited ataxia cases
Inherited ataxias are heterogeneous neurodegenerative disorders in which diagnostic evaluation is often challenging. The success… 
Review
2009
Review
2009
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes
Sirs,The ability to distinguish between sporadic presentationsof hereditary spastic paraparesis (HSP) and primary… 
2007
2007
A clinical, genetic and biochemical study of hereditary spastic paraplegia
The hereditary spastic paraplegias (HSPs) represent a clinically and genetically heterogeneous group of neurological disorders… 
2003
2003
NEUROSCIENCE FOR NEUROLOGISTS Mitochondria
Following the discovery in the early 1960s that mitochondria contain their own DNA (mtDNA), there were two major advances, both… 
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