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Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA

Majamaa-Voltti, K ; Turkka, J ; Kortelainen, M-L ; Huikuri, H ; Majamaa, K Majamaa-Voltti, K (correspondence author)

Journal of Neurology, Neurosurgery and Psychiatry, Feb 2008, Vol.79(2), pp.209-211 [Peer Reviewed Journal]

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Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

Hasselmann, Oswald ; Blau, Nenad ; Ramaekers, Vincent ; Quadros, Edward ; Sequeira, J ; Weissert, Markus Hasselmann, Oswald (correspondence author)

Molecular Genetics and Metabolism, Jan 2010, Vol.99(1), pp.58-61 [Peer Reviewed Journal]

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Whole mitochondrial DNA variations in hippocampal surgical specimens and blood samples with high-throughput sequencing: A case of mesial temporal lobe epilepsy with hippocampal sclerosis

Azakli, Hulya ; Gurses, Candan ; Arikan, Muzaffer ; Aydoseli, Aydin ; Aras, Yavuz ; Sencer, Altay ; Gokyigit, Aysen ; Bilgic, Bilge ; Ustek, Duran Azakli, Hulya (correspondence author)

Gene, Oct 2013, Vol.529(1), pp.190-194 [Peer Reviewed Journal]

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Sporadic Hyperekplexia Plus Syndrome

Chandra, Sadanandavalli Retnaswami ; Vekhande, Chetan ; Viswanathan, Lakshminarayanapuram Gopal ; Mailankody, Pooja ; Teja, Karru Venkata Ravi

Journal of Pediatric Neurosciences, 2017, Vol.12(1), p.36-39 [Peer Reviewed Journal]

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Novel ATP7A gene mutation in a patient with Menkes disease

Caicedo-Herrera, Gabriela ; Candelo, Estephania ; Pinilla, Juan ; Vidal, Andrés ; Cruz, Santiago ; Pachajoa, Harry Mauricio

The Application of Clinical Genetics, 2018, Vol.11, p.151-155 [Peer Reviewed Journal]

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Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Tan, Yuxia ; Hou, Mei ; Ma, Shaochun ; Liu, Peipei ; Xia, Shungang ; Wang, Yu ; Chen, Liping ; Chen, Zongbo

BMC Medical Genetics, 2018, Vol.19 [Peer Reviewed Journal]

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Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

Nickel, Kathrin ; Tebartz Van Elst, Ludger ; Domschke, Katharina ; Gläser, Birgitta ; Stock, Friedrich ; Endres, Dominique ; Maier, Simon ; Riedel, Andreas

BMC Psychiatry, 2018, Vol.18 [Peer Reviewed Journal]

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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Arnadottir, Gudny A ; Jensson, Brynjar O ; Marelsson, Sigurdur E ; Sulem, Gerald ; Oddsson, Asmundur ; Kristjansson, Ragnar P ; Benonisdottir, Stefania ; Gudjonsson, Sigurjon A ; Masson, Gisli ; Thorisson, Gudmundur A ; Saemundsdottir, Jona ; Magnusson, Olafur Th ; Jonasdottir, Adalbjorg ; Jonasdottir, Aslaug ; Sigurdsson, Asgeir ; Gudbjartsson, Daniel F ; Thorsteinsdottir, Unnur ; Arngrimsson, Reynir ; Sulem, Patrick ; Stefansson, Kari Arnadottir, Gudny A (correspondence author) ; Arnadottir, Gudny A (record owner)

BMC medical genetics, October 2, 2017, Vol.18(1), p.103 [Peer Reviewed Journal]

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  1. Candelo, Estephania
  2. Pinilla, Juan
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