Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

Paiva, Anderson Rodrigues Brandão de; Pessoa, André Luiz Santos; Nóbrega, Paulo Ribeiro; Moreno, Cristiane Araujo Martins; Lynch, David S; Taniguti, Lucas Mitsuo; Kitajima, João Paulo; ... Kok, Fernando; + view all (2023) Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2022-330135. (In press). Green open access

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Type:	Article
Title:	Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Location:	England
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1136/jnnp-2022-330135
Publisher version:	http://dx.doi.org/10.1136/jnnp-2022-330135
Language:	English
Additional information:	This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords:	cerebellar ataxia, epilepsy, neurogenetics, paediatric neurology
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI:	https://discovery.ucl.ac.uk/id/eprint/10166685

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