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Heredit Spastic Paraplegia
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Heredit Spastic Paraplegia
CAPN1
mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype
Jeffrey
Lambe
,
Bernadette
Monaghan
,
Tudor
Munteanu
,
Janice
Redmond
Practical Neurology
Oct 2018,
18
(5)
369-372;
DOI:
10.1136/practneurol-2017-001842
A 57-year-old man with deteriorating mobility and deafness
Maria
Stavrou
,
Jing Ming
Yeo
,
Richard
Davenport
Practical Neurology
Oct 2018,
18
(5)
417-420;
DOI:
10.1136/practneurol-2018-001941
Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance
Victoria Anne
Nowak
,
Fion
Bremner
,
Luke
Massey
,
Beatrijs
Wokke
,
Reza
Moosavi
,
Eleanna
Kara
,
Henry
Houlden
Practical Neurology
Aug 2014,
14
(4)
278-279;
DOI:
10.1136/practneurol-2014-000861
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis
Zoe
Nicholls
,
Esther
Hobson
,
Joanne
Martindale
,
Pamela J
Shaw
Practical Neurology
Aug 2015,
15
(4)
280-283;
DOI:
10.1136/practneurol-2015-001117
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