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Neuro genetics
- A case of sporadic erythromelalgia presenting with small fibre neuropathyPavan Patel, Yan Zhang, Lynne H Unikel, Christopher EdwardsBMJ Case Reports CP Oct 2019, 12 (10) e230549; DOI: 10.1136/bcr-2019-230549
- Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraineMarianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De AngelisBMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
- Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1WingYee Wan, Bichle Nguyen, Sky Graybill, Jonathan KimBMJ Case Reports CP Jun 2019, 12 (6) e228263; DOI: 10.1136/bcr-2018-228263
- Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W BarañanoBMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
- Rapidly progressive global cerebral atrophy in the setting of anti-LGI1 encephalitisAnudeep Yelam, Elanagan Nagarajan, Pradeep C BolluBMJ Case Reports CP May 2019, 12 (5) e228428; DOI: 10.1136/bcr-2018-228428
- Intellectual disability in boys: mark the face!Surya Saini, Bhanudeep Singanamala, Arushi Gahlot SainiBMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271
- Slowly progressive distal muscle weakness: neuropathy or myopathy?Yafit Nahari, Ahmed Abbas, Elizabeth Curtis, Saiju JacobBMJ Case Reports CP Apr 2019, 12 (4) e226903; DOI: 10.1136/bcr-2018-226903
- Harding’s disease: an important MS mimicStuti Joshi, Allan G KermodeBMJ Case Reports CP Mar 2019, 12 (3) e228337; DOI: 10.1136/bcr-2018-228337
- Late-onset presentation of POLG1-associated mitochondrial diseaseBruna Meira, Rafael Roque, Miguel Pinto, André CaetanoBMJ Case Reports CP Mar 2019, 12 (3) e228482; DOI: 10.1136/bcr-2018-228482
- Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndromeDaphna Prat, Iris Ben Bassat Mizrachi, Vicktoria Vishnevskia-DaiBMJ Case Reports CP Feb 2019, 12 (2) bcr-2017-224079; DOI: 10.1136/bcr-2017-224079
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