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Neurology. Genetics|June 26, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published casesGeorgia Xiromerisiou, Chrysoula Marogianni, Katerina Dadouli, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Neurology. Genetics|April 14, 2023
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated DiseaseBirute Burnyte, Ramune Vilimiene, Kristina Grigalioniene, et al.
Neurology. Genetics|April 14, 2023
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2Jordan Langford, Lana Vukadin, John C Carey, et al.
Neurology. Genetics|May 8, 2023
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical FeaturesJoshua B Hack, Kyle Horning, Denise M Juroske Short, et al.
Neurology. Genetics|August 18, 2020
Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigueKarine Auré, Guillemette Fayet, Ivan Chicherin, et al.
Neurology. Genetics|August 18, 2020
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotypeAlfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, et al.
Neurology. Genetics|April 22, 2021
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, et al.
Neurology. Genetics|July 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline MyopathyClara Hildebrandt, Casie A Genetti, Tanya Logvinenko, et al.
Neurology. Genetics|June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic DiseaseAlena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
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