Publications by authors named "Ines Mademan"

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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O'Donovan, Inès Mademan

JCI Insight· July 2021

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Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.
Claire G Salter, Danique Beijer, Holly Hardy, Katy E S Barwick, Matthew Bower, Ines Mademan

Neurol Genet· April 2018

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Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Jamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, Shawna Feely, Inès Mademan

Hum Mutat· March 2018

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu

Brain· May 2017

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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Inès Mademan, Florian Harmuth, Ilaria Giordano, Dagmar Timmann, Stefania Magri

Brain· August 2016

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A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.
Uluç Yiş, Inès Mademan, Salih Kavukçu, Jonathan Baets

Acta Neurol Belg· September 2015

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A novel AARS mutation in a family with dominant myeloneuropathy.
William W Motley, Laurie B Griffin, Inès Mademan, Jonathan Baets, Els De Vriendt

Neurology· May 2015

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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W Seeley, Inès Mademan

Brain· April 2015

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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz

Brain· March 2014

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De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
Inès Mademan, Tine Deconinck, Argirios Dinopoulos, Thomas Voit, Ulrike Schara

Neurology· November 2013

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