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Neuro genetics
- Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick diseaseDebaleena Mukherjee, Souvik Dubey, Goutam Ganguly, Alak PanditBMJ Case Reports CP Jan 2021, 14 (1) e239630; DOI: 10.1136/bcr-2020-239630
- Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild formWeiyi Mu, Teresa Heller, Kristin W BarañanoBMJ Case Reports CP Jan 2021, 14 (1) e236732; DOI: 10.1136/bcr-2020-236732
- Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosisJordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn BrennanBMJ Case Reports CP Dec 2020, 13 (12) e237978; DOI: 10.1136/bcr-2020-237978
- Creatine transporter deficiency, an underdiagnosed cause of male intellectual disabilityNeha Jangid, Priyanka Surana, Gajja Salmonos, Vivek JainBMJ Case Reports CP Dec 2020, 13 (12) e237542; DOI: 10.1136/bcr-2020-237542
- Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB geneNaveen Parkash Gupta, Vinita Verma, Saurabh Chopra, Vivek ChoudhuryBMJ Case Reports CP Dec 2020, 13 (12) e236152; DOI: 10.1136/bcr-2020-236152
- A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2Andrea Zonta, Alessandro Brussino, Patrizia Dentelli, Alfredo BruscoBMJ Case Reports CP Dec 2020, 13 (12) e238108; DOI: 10.1136/bcr-2020-238108
- Hyperglycaemic chorea-ballism or unmasking of Huntington’s chorea in a patient with diabetesAnudeep Yelam, Elanagan Nagarajan, Lakshmi Prasanna Digala, Pradeep C BolluBMJ Case Reports CP Mar 2020, 13 (3) e232726; DOI: 10.1136/bcr-2019-232726
- Adult-onset methylenetetrahydrofolate reductase deficiencyDaniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, Maria Carmo MacárioBMJ 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 ArrossiBMJ Case Reports CP Jan 2020, 13 (1) e227379; DOI: 10.1136/bcr-2018-227379
- Infantile refractory seizures due to de novo KCNT 1 mutationMahdi Alsaleem, Vivien Carrion, Arie Weinstock, Praveen ChandrasekharanBMJ Case Reports CP Oct 2019, 12 (10) e231178; DOI: 10.1136/bcr-2019-231178
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