Stephan Züchner

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schüle, Sarah Wiethoff, Peter Martus et al. · Annals of Neurology · 2016 · 311 citations

Life Sciences, Genetics, Neurology +17

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

Vincent Timmerman, Alleene V. Strickland, Stephan Züchner · Genes · 2014 · 252 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço et al. · Brain · 2013 · 226 citations · Full text

Life Sciences, Genetics, Neurology +17

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10