De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation-Reference-Cited by-同舟云学术

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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Published:2020-10 Issue:4 Volume:107 Page:763-777
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mendoza-Ferreira Natalia,Karakaya Mert,Cengiz Nur,Beijer Danique,Brigatti Karlla W.,Gonzaga-Jauregui Claudia,Fuhrmann Nico,Hölker Irmgard,Thelen Maximilian P.,Zetzsche Sebastian,Rombo Roman,Puffenberger Erik G.,De Jonghe Peter,Deconinck Tine,Zuchner Stephan,Strauss Kevin A.,Carson Vincent,Schrank Bertold,Wunderlich Gilbert,Baets Jonathan,Wirth Brunhilde

Funder

Seventh Framework Programme

Center for Molecular Medicine Cologne, University of Cologne

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference79 articles.

1. Hereditary motor-sensory, motor, and sensory neuropathies in childhood;Landrieu;Handb. Clin. Neurol.,2013

2. Inherited neuropathies: clinical overview and update;Klein;Muscle Nerve,2013

3. Genetic aspects of hereditary motor and sensory neuropathy (types I and II);Harding;J. Med. Genet.,1980

4. Inherited Neuronal Atrophy and Degeneration Predominantly of Lower Motor Neurons∗ A2 - Dyck, Peter J;Harding,2005

5. Genetic heterogeneity of motor neuropathies;Bansagi;Neurology,2017

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5. Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases;Brain;2022-11-29

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