A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

Affiliations

¹ 1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK 2 Dipartimento di Scienze Neurologiche e del Movimento, Università di Verona, Verona, Italy.
² 3 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
³ 1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK k.bhatia@ucl.ac.uk.

Comment

Roberto Erro et al. Brain. 2015 Aug.

. 2015 Aug;138(Pt 8):e370.

doi: 10.1093/brain/awu403. Epub 2015 Jan 21.

¹ 1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK 2 Dipartimento di Scienze Neurologiche e del Movimento, Università di Verona, Verona, Italy.
² 3 Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
³ 1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK k.bhatia@ucl.ac.uk.

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Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.
Hamilton EM, Wolf NI, van der Knaap MS. Hamilton EM, et al. Brain. 2015 Aug;138(Pt 8):e371. doi: 10.1093/brain/awu404. Epub 2015 Jan 24. Brain. 2015. PMID: 25619510 No abstract available.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.