A5036678073- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Myasthenia Gravis and Thymoma
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Ubiquitin and proteasome pathways
- Agricultural Economics and Practices
- Skin Diseases and Diabetes
- Neurological and metabolic disorders
- Calpain Protease Function and Regulation
- Diverse Scientific Research Studies
- Sleep and Wakefulness Research
- Ion channel regulation and function
- Genomics and Rare Diseases
- Obstructive Sleep Apnea Research
- Neurogenetic and Muscular Disorders Research
- Extraction and Separation Processes
- Neuroscience of respiration and sleep
- Chromatin Remodeling and Cancer
- Psychosomatic Disorders and Their Treatments
- Systemic Sclerosis and Related Diseases
- Signaling Pathways in Disease
- Heavy Metal Exposure and Toxicity
- Trace Elements in Health
National Institute of Mental Health and Neurosciences
2020-2021
Frontotemporal dementia (FTD) syndromes are a complex group of disorders characterised by profound changes in behaviour and cognition. Many the observed behavioural abnormalities now recognised to be due impaired social While deficits emotion recognition empathy well-recognised behavioural-variant (Bv)FTD, limited information exists about nature cognitive impairment language variant primary progressive aphasia (PPA) that includes non-fluent (PNFA) semantic (SD), motor variants FTD...
Pathogenic variants in PLEKHG5 have been reported to date be causative three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and one consanguineous family spinal muscular atrophy (SMA). is known expressed the human peripheral nervous system, previous studies shown its function axon terminal autophagy of synaptic vesicles, lending support underlying pathogenetic mechanism. Despite this, there limited knowledge clinical genetic spectrum disease.We...
Calpainopathy is caused by mutations in the CAPN3 . There only one clinical and genetic study of from India none South India. A total 72 (male[M]:female [F] = 34:38) genetically confirmed probands independent families are included this study. Consanguinity was present 54.2%. The mean age onset duration symptoms 13.5 ± 6.4 6.3 4.7 years, respectively. Positive family history occurred 23.3%. predominant initial were proximal lower limb weakness (52.1%) toe walking (20.5%). At presentation,...
Mutations in the GMPPB gene affect glycosylation of α-dystroglycan, leading to varied clinical phenotypes. We attempted delineate muscle MR imaging spectrum GMPPB-related Congenital Myasthenic syndrome (CMS) a single-center cohort study.To identify distinct patterns involvement mutations.We analyzed images 7 genetically proven cases dystroglycanopathy belonging three families and studied potential qualitative pattern aid clinico -radiological diagnosis neuromuscular practice. All individuals...
Hyperglycemic hyperosmolar syndrome should be considered in the differential diagnosis of acute onset facial hyperkinesias. Multiple movement disorders, e.g., hemifacial spasm, blepharospasm, and oromandibular dystonias, may occur a single patient. The early proper treatment metabolic derangements hyperglycemic state usually results complete resolution induced
Lead poisoning is a multisystem disorder, more commonly affecting children. Occupational exposure, traditional medicines, and contaminated alcohol have been associated with lead encephalopathy in adults. Herein, we report patient of toxicity presenting to the emergency services as acute symptomatic hyponatremia chronic recurrent abdominal colic vomiting. This 50-year-old battery mechanic had involvement anemia, basophilic stippling, line on gums, hypertension. The blood level was than 65...
Background and purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported English literature. Methods A detailed evaluation was conducted of clinical, muscle magnetic resonance imaging (MRI), genetic findings two unrelated adults with MYPN-related cap Genetic analysis performed using whole-exome sequencing. MRI on a 1.5-T device patient 1. Results Two born consanguineous parents, 28-year-old male...