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Neuro genetics
- Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 geneAnudeep Yelam, Elanagan Nagarajan, Miguel Chuquilin, Raghav GovindarajanBMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-227755; DOI: 10.1136/bcr-2018-227755
- Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literatureSubhanudh Thavaraputta, Suzanne Graham, Ana M Rivas Mejia, Joaquin Lado-AbealBMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226702; DOI: 10.1136/bcr-2018-226702
- Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutationAna Luísa Rocha, Andreia Costa, Maria Carolina Garrett, Joana MeirelesBMJ Case Reports CP Nov 2018, 11 (1) e226664; DOI: 10.1136/bcr-2018-226664
- Anti-HMGCR antibody-associated necrotising myopathy and its association with statin useYlenia Abdilla, Charmaine Chircop, Norbert VellaCase Reports Nov 2018, 2018 bcr-2018-226302; DOI: 10.1136/bcr-2018-226302
- Hereditary sensory and autonomic neuropathy in a male child: ‘The other side of not feeling pain’Nripen Gaur, Rachna Meel, Shahnaz Anjum, Pallavi SinghCase Reports Sep 2018, 2018 bcr-2018-226873; DOI: 10.1136/bcr-2018-226873
- Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto’s encephalopathyJessica M Stevens, Matthew R Levine, Anne E Constantino, Gholam K MotamediCase Reports Jul 2018, 2018 bcr-2018-225155; DOI: 10.1136/bcr-2018-225155
- Neuroimaging findings in Menkes disease: a rare neurodegenerative disorderPulkit Rangarh, Neera KohliCase Reports May 2018, 2018 bcr-2017-223858; DOI: 10.1136/bcr-2017-223858
- Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxiaArushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha SinghiCase Reports Apr 2018, 2018 bcr-2017-220193; DOI: 10.1136/bcr-2017-220193
- More than meets the eye: infant presenting with hypoxic ischaemic encephalopathyKuntal Sen, Rajkumar AgarwalCase Reports Apr 2018, 2018 bcr-2017-223614; DOI: 10.1136/bcr-2017-223614
- Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasiaJacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara CastellottiCase Reports Feb 2018, 2018 bcr-2017-223390; DOI: 10.1136/bcr-2017-223390
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