Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis

scientific article published on 09 March 2019

Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.NRL.2018.07.001
P698PubMed publication ID30862385

P2093author name stringB Martínez Menéndez
B Fournier Gil
M S Ramiro León
S Urtiaga Valle
P921main subjectspastic paraparesisQ55083510
paraparesisQ3363589
P577publication date2019-03-09
P1433published inNeurologíaQ26841855
P1476titleUsefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis

Reverse relations

cites work (P2860)
Q98195458KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Q99552791Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

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