Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy Senda Ajroud-DrissFaisal FectoTeepu Siddique Original Article 06 September 2014 Pages: 1 - 9
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7 L. Velázquez-PérezC. M. Cerecedo-ZapataJ. J. Magaña Original Article 16 October 2014 Pages: 11 - 21
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene Ruth ShefferOdeya Bennett-BackOrly Elpeleg Original Article 22 October 2014 Pages: 23 - 26
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases Elena Sinkiewicz-DarolAndressa Ferreira LacerdaAndrzej Kochański Original Article Open access 24 October 2014 Pages: 27 - 32
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach Magdalena ZimońEsra BattaloğluAlbena Jordanova Original Article 18 September 2014 Pages: 33 - 42
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom P. LaššuthováD. Šafka BrožkováP. Seeman Original Article 24 October 2014 Pages: 43 - 54
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate Marialuisa QuadriXu YangVincenzo Bonifati Original Article 08 October 2014 Pages: 55 - 64
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism Michael J. KeoghD. DaudPatrick F. Chinnery Short Communication 25 November 2014 Pages: 65 - 67
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy Panagiotis I. SergouniotisRahat PerveenMarcela Votruba Short Communication 27 August 2014 Pages: 69 - 75
