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Article

Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients.

Brain & development - 1 Oct 2017

Kaneko Kaori, Arakawa Reiko, Urano Mari, Aoki Ryoko, Saito Kayoko

Abstract excerpt

AIM: To clarify the long-term natural history of SMA in Japanese patients by investigating the peak motor milestones of cases 7months through 57years of age, in efforts to contribute to evaluating outcomes of new therapeutic interventions. METHODS: We sub-classified 112 SMA type I-III cases into type Ia, type Ib, type IIa, type IIb, type IIIa and type IIIb, according to peak motor milestone achieved, and analyzed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28601407
DOI: 10.1016/j.braindev.2017.04.018

Genes

NAIP
SMN1
SMN2

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