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SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)

Known as: SPG44, Spastic Paraplegia 44, Autosomal Recessive 
 
National Institutes of Health

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Related topics

7 relations
Action TremorAutosomal recessive inheritanceCerebellar AtaxiaDysarthria
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Broader (1)

Spastic Paraplegia, Hereditary

Papers overview

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2019
2019
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
OBJECTIVE Recessive mutations in the Gap Junction Protein Gamma 2 (GJC2) gene cause Pelizaeus-Merzbacher-like disease type 1, a… Expand
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Review
2019
Review
2019
Diseases of connexins expressed in myelinating glia
Connexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well… Expand
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Review
2013
Review
2013
Inborn errors of brain myelin formation.
Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) represent a heterogeneous group of white matter… Expand
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Review
2012
Review
2012
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are… Expand
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