You are here
- Home
- Neuro genetics
Neuro genetics
- Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestationBenjamin Wei-Liang Ng, Jeffrey Soon-Yit Lee, Teck-Hock Toh, Lock-Hock NguBMJ Case Reports CP Jun 2022, 15 (6) e250360; DOI: 10.1136/bcr-2022-250360
- Late onset AMACR deficiency with metabolic stroke-like episodes and seizuresMatthew J Tanti, Melissa J Maguire, Daniel J Warren, John BamfordBMJ 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 LiangBMJ 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 NielsenBMJ Case Reports CP Mar 2022, 15 (3) e248228; DOI: 10.1136/bcr-2021-248228
- Novel likely pathogenic SLC20A variant in primary familial brain calcificationRishi Sharma, Derek StittBMJ 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 lipofuscinosisDebaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik DubeyBMJ Case Reports CP Feb 2022, 15 (2) e247790; DOI: 10.1136/bcr-2021-247790
- Infantile onset ascending hereditary spastic paralysisAli Eltoum, Declan O'Rourke, Farhana SharifBMJ 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 10David Vaughan, Adrinda Affendi, Patrick Sheahan, Brian SweeneyBMJ Case Reports CP Dec 2021, 14 (12) e245484; DOI: 10.1136/bcr-2021-245484
- Expanding the phenotype of SLC12A6-associated sensorimotor neuropathyPetya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M MurphyBMJ 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 geneAishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar NarasimhanBMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152
Pages
- CLINICAL
- Anaesthesia (174)
- Cardiovascular medicine (819)
- Dermatology (412)
- Diagnostics
- Radiology (diagnostics) (135)
- Drugs and medicines (1512)
- Emergency medicine
- Poisoning (37)
- Resuscitation (51)
- Trauma (140)
- Emergency medicine (394)
- Endocrinology
- Adrenal disorders (104)
- Calcium and bone (77)
- Diabetes (109)
- Lipid disorders (23)
- Metabolic disorders (79)
- Pituitary disorders (47)
- Thyroid disease (101)
- Endocrinology (536)
- Evidence based practice
- Gastroenterology (779)
- Gastroenterology
- Endoscopy (144)
- GI bleeding (91)
- Liver disease (164)
- Oesophagus (50)
- Pancreatitis (54)
- Portal hypertension (16)
- Small intestine (66)
- Stomach and duodenum (76)
- Genetics
- Genetics (234)
- Geriatric medicine
- Long term care (17)
- Geriatric medicine (57)
- HIV/AIDS (67)
- Infectious diseases (1096)
- Intensive care
- Adult intensive care (267)
- Intensive care (478)
- Neurology
- Cerebral palsy (6)
- Cranial nerves (91)
- Dementia (7)
- Hydrocephalus (18)
- Infection (neurology) (142)
- Multiple sclerosis (14)
- Muscle disease (38)
- Neuroimaging (339)
- Neurological injury (66)
- Neurooncology (100)
- Pain (neurology) (43)
- Spinal cord (92)
- Stroke (205)
- Trauma CNS / PNS (36)
- Neurology (1328)
- Nursing (28)
- Nutrition and metabolism
- Diet (20)
- Malnutrition (20)
- Obesity (nutrition) (15)
- Oncology (1196)
- Ophthalmology (606)
- Orthopaedics (305)
- Paediatrics
- Child abuse (5)
- Congenital disorders (245)
- Failure to thrive (18)
- Infant health (29)
- Neonatal health (74)
- Paediatrics (687)
- Palliative care
- Palliative care (35)
- Pathology
- Pathology (463)
- Pharmacology and therapeutics
- Toxicology (45)
- Prison medicine (1)
- Psychiatry
- Delirium (16)
- Drugs: psychiatry (25)
- Eating disorders (6)
- Psychotherapy (14)
- Sleep disorders (2)
- Psychiatry (187)
- Radiology (718)
- Rehabilitation medicine
- Disability (13)
- Physiotherapy (34)
- Renal medicine
- Acute renal failure (93)
- Dialysis (49)
- Nephrotic syndrome (24)
- Proteinurea (25)
- Renal medicine (303)
- Respiratory medicine (508)
- Rheumatology
- Biological agents (30)
- Fibromyalgia (2)
- Osteoarthritis (12)
- Osteoporosis (11)
- Rheumatoid arthritis (34)
- Vascularitis (141)
- Rheumatology (473)
- Sexual health (89)
- Surgery
- Breast surgery (57)
- Cardiothoracic surgery (173)
- Gastrointestinal surgery (383)
- General surgery (404)
- Neurosurgery (180)
- Otolaryngology / ENT (214)
- Surgical oncology (195)
- Transplantation (50)
- Urological surgery (163)
- Vascular surgery (166)
- Surgery (2146)
- Urology (222)
- NON-CLINICAL
- Epidemiology
- Ethics
- Ethics (13)
- Ethnic studies (2)
- Health economics (7)
- Health informatics
- Medical careers
- Medical education
- Medical education (88)
- Medical management
- Medical management (176)
- Public health
- Public health (57)
- Smoking and tobacco (15)
- Sociology (1)
- Statistics and research methods
- Special collections
- BMJ Series
- Case Reports
- Global health (48)
- Images in... (1787)
- Learning from errors (76)
- New disease (44)
- Rare disease (2124)
- COVID-19 (459)
- Editor's choice (56)
- Endgames
- Open access (559)
- Original research articles