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Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics|August 31, 2016
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndromeAravindhan Veerapandiyan, Amit Chaudhari, Christin M Traba, et al.
Neurology. Genetics|September 27, 2016
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTDJulie van der Zee, Peter Mariën, Roeland Crols, et al.
Neurology. Genetics|September 27, 2016
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilitySofia Steinrücke, Katja Lohmann, Aloysius Domingo, et al.
Neurology. Genetics|June 16, 2018
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K L Wong, Hongsheng Gui, Maxwell Kwok, et al.
Neurology. Genetics|November 30, 2016
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathyYuji Takahashi, Masahiro Kanai, Tomoya Taminato, et al.
Neurology. Genetics|April 17, 2023
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 VariationsHélène Morel, Laurent Bailly, Cédric Urbanczyk, et al.
Neurology. Genetics|April 24, 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo Monfrini, Alba Pesini, Fabio Biella, et al.
Neurology. Genetics|April 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.
Neurology. Genetics|July 9, 2020
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma geneYing Hong, Annette Keylock, Barbara Jensen, et al.
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