Anneke A. W. M. Gabreëls‐Festen

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Frank Baas, Ruud A. Wolterman et al. · Nature Genetics · 1992 · 423 citations

Life Sciences, Genetics, Molecular Genetics +11

Overloaded Endoplasmic Reticulum–Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

Donatella D’Urso, Reinhard Prior, Regine Greiner–Petter et al. · Journal of Neuroscience · 1998 · 112 citations · Full text

Medicine, Neurology, Neuroscience +17

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

C. Oliver Hanemann, Donatella D’Urso, Anneke A. W. M. Gabreëls‐Festen et al. · Brain · 2000 · 52 citations

Medicine, Genetics, Neurology +17

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

C. Oliver Hanemann, Anneke A. W. M. Gabreëls‐Festen, Guido Stoll et al. · Acta Neuropathologica · 1997 · 51 citations

Medicine, Neurology, Neuroscience +15

Human Nerve Pathology Caused by Different Mutational Mechanisms of the <i>PMP22</i> Gene

Anneke A. W. M. Gabreëls‐Festen, RUDI VAN DE WETERING · Annals of the New York Academy of Sciences · 1999 · 47 citations

Medicine, Neurology, Neuroscience +17