Ivan Litvinenko

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza et al. · The American Journal of Human Genetics · 2013 · 137 citations · Full text

Kinesiology, Mendelian Disorder, Genetic Disorder +5

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Alexander M. Rossor, Emily C. Oates, Hannah K. Salter et al. · Brain · 2014 · 97 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva et al. · The American Journal of Human Genetics · 2003 · 69 citations · Full text

Biology, Chromatin, Chromosome Dynamics +7

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

Neviana Ivanova, Kristl G. Claeys, Tine Deconinck et al. · Archives of Neurology · 2007 · 51 citations