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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.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
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