Neuro genetics

Hyperglycaemic chorea-ballism or unmasking of Huntington’s chorea in a patient with diabetes
Anudeep Yelam, Elanagan Nagarajan, Lakshmi Prasanna Digala, Pradeep C Bollu

BMJ Case Reports CP Mar 2020, 13 (3) e232726; DOI: 10.1136/bcr-2019-232726
Adult-onset methylenetetrahydrofolate reductase deficiency
Daniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, Maria Carmo Macário

BMJ Case Reports CP Mar 2020, 13 (3) e232241; DOI: 10.1136/bcr-2019-232241
Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)
Gustavo Ferrer, Alwiya Omar Saleh, Henry D Tazelaar, Andrea V Arrossi

BMJ Case Reports CP Jan 2020, 13 (1) e227379; DOI: 10.1136/bcr-2018-227379
Infantile refractory seizures due to de novo KCNT 1 mutation
Mahdi Alsaleem, Vivien Carrion, Arie Weinstock, Praveen Chandrasekharan

BMJ Case Reports CP Oct 2019, 12 (10) e231178; DOI: 10.1136/bcr-2019-231178
A case of sporadic erythromelalgia presenting with small fibre neuropathy
Pavan Patel, Yan Zhang, Lynne H Unikel, Christopher Edwards

BMJ 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 migraine
Marianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De Angelis

BMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1
WingYee Wan, Bichle Nguyen, Sky Graybill, Jonathan Kim

BMJ 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 THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ 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 encephalitis
Anudeep Yelam, Elanagan Nagarajan, Pradeep C Bollu

BMJ 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 Saini

BMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271

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- Statistics and research methods (1)
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Neuro genetics

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