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Publications by Claus Lenski

Rare Missense and Synonymous Variants in UBE1 Are Associated With X-Linked Infantile Spinal Muscular Atrophy

American Journal of Human Genetics

English

Related publications

A Pathogenic Missense Variant (C.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

Frontiers in Pediatrics

English

P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype

English

Two Brothers With Very Late Onset of Muscle Weakness in X-Linked Recessive Spinal and Bulbar Muscular Atrophy

Clinical Neurology

English

Erratum: Corrigendum: Reduced Transcriptional Regulatory Competence of the Androgen Receptor in X–linked Spinal and Bulbar Muscular Atrophy

Nature Genetics

English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri

English

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine

Intensive Care Medicine

English

Germline Missense Variants in the BTNL2 Gene Are Associated With Prostate Cancer Susceptibility

Cancer Epidemiology Biomarkers and Prevention

English

Spinal Muscular Atrophy With Preserved Deep Tendon Reflexes

Indian Journal of Pediatrics

English

Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy

Genetics in Medicine

English