Janina Borkowska

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

Klaus Zerres, Sabine Rudnik‐Schöneborn, Eric Forrest et al. · Journal of the Neurological Sciences · 1997 · 282 citations

Neuromusculoskeletal Disorder, Spinal Disorder, Natural History +9

Localization of the gene for X‐linked spinal muscular atrophy

Kenneth H. Fischbeck, Victor Ionâşescu, Albert W. Ritter et al. · Neurology · 1986 · 84 citations

Mendelian Disorder, Genetic Disorder, Medicine +9

Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I–III from the Point of View of Progression and Severity

Sabine Rudnik‐Schöneborn, Susanne Lützenrath, Janina Borkowska et al. · European Neurology · 1998 · 65 citations

Unaffected patients with a homozygous absence of the SMN1 gene

Maria Jędrzejowska, Janina Borkowska, Janusz Zimowski et al. · European Journal of Human Genetics · 2008 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III

Sabine Rudnik‐Schöneborn, I Hausmanowa-Pétrusewicz, Janina Borkowska et al. · European Neurology · 2001 · 57 citations

Predictive Value, Motor Control, Motor Difficulty +16