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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
by
Degoutin, Manon
,
Angelini, Chloé
,
Bar, Claire
,
El Khedoud, Wahiba Amer
,
Barnerias, Christine
,
Boulariah-Hadjou, Razika
,
Estiar, Mehrdad A
,
Ewenczyk, Claire
,
Gan-Or, Ziv
,
Lacombe, Didier
,
Lefeuvre, Claire
,
Majethia, Purvi
,
Messaoud-Khelifi, Mouna
,
Narayanan, Dhanya Lakshmi
,
Rouleau, Guy A
,
Suchowersky, Oksana
,
Shukla, Anju
,
Guillaud-Bataille, Marine
,
Stevanin, Giovanni
,
Goizet, Cyril
Published in
European journal of neurology
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European Journal Of Neurology
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Adolescent
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Adult
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Child
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Child, Preschool
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Female
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Humans
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Infant
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Intellectual Disability - Genetics
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Mutation
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Neurodegenerative Diseases - Complications
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Neurodegenerative Diseases - Genetics
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Original
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Paraplegia
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Pedigree
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Phenotype
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Spastic Paraplegia, Hereditary - Genetics
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Spastin - Genetics
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