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Publications by Yu. S. Itkis
Infantile and Early Childhood Onset of Mitochondrial Myopathy Due to Mutations in the TK2 Gene With a Phenotype of Spinal Muscular Atrophy 5q: The First Cases in Russia
Nervno-Myshechnye Bolezni
Neurology
Related publications
P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
Incidence, Prevalence, and Gene Frequency Studies of Chronic Childhood Spinal Muscular Atrophy.
Journal of Medical Genetics
Genetics
Hereditary Optic Atrophy With Onset in Early Childhood.
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2
Genetics in Medicine
Medicine
Genetics
Rare Missense and Synonymous Variants in UBE1 Are Associated With X-Linked Infantile Spinal Muscular Atrophy
American Journal of Human Genetics
Genetics
A Mixed Methods Exploration of Families’ Experiences of the Diagnosis of Childhood Spinal Muscular Atrophy
European Journal of Human Genetics
Genetics
MR Findings of Spinal Muscular Atrophy Type II: Sibling Cases
Magnetic Resonance in Medical Sciences
Nuclear Medicine
Radiology
Imaging
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First Case From Oman
Sultan Qaboos University Medical Journal
Medicine
