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Neurology. Genetics|May 10, 2016
FTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, et al.
Neurology. Genetics|September 16, 2017
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathyAkihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.
Neurology. Genetics|November 19, 2020
Heterozygous variants in DCC: Beyond congenital mirror movementsSebastian Thams, Mominul Islam, Marie Lindefeldt, et al.
Neurology. Genetics|November 2, 2020
Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementiaMan-Hung Eric Tang, Joseph P M Blair, Cecilie Liv Bager, et al.
Neurology. Genetics|November 2, 2020
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophyHitoshi Kashiki, Heng Li, Sachiko Miyamoto, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Neurology. Genetics|January 13, 2023
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic ParaplegiaMatthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, et al.
Neurology. Genetics|December 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, et al.
Neurology. Genetics|December 19, 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern SpainRaquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.
Neurology. Genetics|December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 RegionChristelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.
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