I. Mademan

发表

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

S. Mundlos, P. Krawitz, J. Hecht, 2014, Brain : a journal of neurology.

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

J. Chilton, R. Blakely, E. Baple, 2018, Neurology: Genetics.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

G. Worrell, M. Grossman, W. Seeley, 2015, Brain : a journal of neurology.

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

D. Timmann, S. Züchner, D. Jokisch, 2016, Brain : a journal of neurology.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

M. Wheeler, J. Taylor, Lin Guo, 2021, JCI insight.

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

H. J. Kim, M. Wheeler, J. Taylor, 2021, medRxiv.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

P. Tsai, Yi-Chung Lee, S. Züchner, 2017, Brain : a journal of neurology.

A novel AARS mutation in a family with dominant myeloneuropathy

S. Scherer, A. Antonellis, P. de Jonghe, 2015, Neurology.

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis

J. Baets, U. Yiş, S. Kavukçu, 2014, Acta Neurologica Belgica.

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

K. Devriendt, E. Lerut, T. Deconinck, 2013, Neurology.

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis

J. Baets, U. Yiş, S. Kavukçu, 2015, Acta Neurologica Belgica.

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

K. Devriendt, E. Lerut, T. Deconinck, 2013, Neurology.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

G. Worrell, W. Seeley, P. Dyck, 2015, Brain : a journal of neurology.