SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato, Elisabetta
SYNE1-ataxia: Novel genotypic and phenotypic findings. [electronic resource] - Parkinsonism & related disorders 05 2019 - 210-214 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-5126
10.1016/j.parkreldis.2018.12.007 doi
Adult
Cerebellar Ataxia--diagnostic imaging
Cytoskeletal Proteins--genetics
Female
Follow-Up Studies
Genotype
Humans
Intellectual Disability--diagnostic imaging
Male
Muscle Spasticity--diagnostic imaging
Mutation--genetics
Nerve Tissue Proteins--genetics
Optic Atrophy--diagnostic imaging
Phenotype
Spinocerebellar Ataxias--diagnostic imaging
SYNE1-ataxia: Novel genotypic and phenotypic findings. [electronic resource] - Parkinsonism & related disorders 05 2019 - 210-214 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-5126
10.1016/j.parkreldis.2018.12.007 doi
Adult
Cerebellar Ataxia--diagnostic imaging
Cytoskeletal Proteins--genetics
Female
Follow-Up Studies
Genotype
Humans
Intellectual Disability--diagnostic imaging
Male
Muscle Spasticity--diagnostic imaging
Mutation--genetics
Nerve Tissue Proteins--genetics
Optic Atrophy--diagnostic imaging
Phenotype
Spinocerebellar Ataxias--diagnostic imaging