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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
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Heritability of cervical spinal cord structure
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Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
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September 15, 2020
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Expanded genetic insight and clinical experience of DNMT1-complex disorder
Hongyan Bi, Kaori Hojo, Masashi Watanabe, et al.

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KCNQ2 encephalopathy manifesting with Rett-like featuresA follow-up into adulthood
Mario Mastrangelo, Filippo Manti, Maria Teresa Giannini, et al.

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Article
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche, Camille Dion, Natacha Broucqsault, et al.

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Brainstem ischemic syndrome in juvenile NF2
John W. Henson, Tara Benkers, Connor McCormick

June 16, 2020
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Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.

January 16, 2020
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Mitochondrial diseases in North AmericaAn analysis of the NAMDC Registry
Emanuele Barca, Yuelin Long, Victoria Cooley, et al.

March 02, 2020
Article
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
Enrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.

January 08, 2020

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