Neuro genetics

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation
Benjamin Wei-Liang Ng, Jeffrey Soon-Yit Lee, Teck-Hock Toh, Lock-Hock Ngu

BMJ Case Reports CP Jun 2022, 15 (6) e250360; DOI: 10.1136/bcr-2022-250360
Late onset AMACR deficiency with metabolic stroke-like episodes and seizures
Matthew J Tanti, Melissa J Maguire, Daniel J Warren, John Bamford

BMJ Case Reports CP Apr 2022, 15 (4) e247964; DOI: 10.1136/bcr-2021-247964
Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Reports CP Mar 2022, 15 (3) e248297; DOI: 10.1136/bcr-2021-248297
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
Birna Ásbjörnsdóttir, Otto Mølby Henriksen, Suzanne Lindquist, Lisbeth Birk Møller, Annette Sidaros, Jørgen Erik Nielsen

BMJ Case Reports CP Mar 2022, 15 (3) e248228; DOI: 10.1136/bcr-2021-248228
Novel likely pathogenic SLC20A variant in primary familial brain calcification
Rishi Sharma, Derek Stitt

BMJ Case Reports CP Mar 2022, 15 (3) e245909; DOI: 10.1136/bcr-2021-245909
Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis
Debaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik Dubey

BMJ Case Reports CP Feb 2022, 15 (2) e247790; DOI: 10.1136/bcr-2021-247790
Infantile onset ascending hereditary spastic paralysis
Ali Eltoum, Declan O'Rourke, Farhana Sharif

BMJ Case Reports CP Jan 2022, 15 (1) e240941; DOI: 10.1136/bcr-2020-240941
Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10
David Vaughan, Adrinda Affendi, Patrick Sheahan, Brian Sweeney

BMJ Case Reports CP Dec 2021, 14 (12) e245484; DOI: 10.1136/bcr-2021-245484
Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy
Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy

BMJ Case Reports CP Oct 2021, 14 (10) e244641; DOI: 10.1136/bcr-2021-244641
Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 gene
Aishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar Narasimhan

BMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152

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CLINICAL
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- Communication
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  - Personal development
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  - Postgraduate
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- Medical education (88)
- Medical management
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- Occupational and environmental medicine (111)
- Patients
- Public health
  - Abuse (child, partner, elder)
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  - Alcohol
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  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
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  - Obesity (public health) (5)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
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  - Violence (other)
  - Violence against women
- Public health (57)
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- Sociology (1)
- Statistics and research methods
  - Comparative effectiveness research
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- Statistics and research methods (1)
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Neuro genetics

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