Literature DB >> 10771899

Molecular diagnosis of neurological disorders in India.

I C Verma1.   

Abstract

The last decade has seen remarkable advances in sequencing the human genes. There are more genes expressed in the brain than any other organ. The knowledge regarding the genome has led to tremendous progress in molecular characterization of the genes responsible for neurological disorders. The present review covers the molecular diagnosis of Duchenne muscular dystrophy, spinal muscular atrophy, and fragile X syndrome. These are three neurologic disorders common in India for which facilities of molecular diagnosis are currently available in the country. As a result of funding by the Department of Biotechnology of the Government of India, a number of molecular diagnostic centers are being established. It is hoped that molecular diagnosis of many more neurological disorders will soon become available in India.

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Year:  1997        PMID: 10771899     DOI: 10.1007/bf02726121

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  7 in total

1.  Development of a screening set for new (CAG/CTG)n dynamic mutations.

Authors:  J M Gastier; T Brody; J C Pulido; T Businga; S Sunden; X Hu; S Maitra; K H Buetow; J C Murray; V C Sheffield; M Boguski; G M Duyk; T J Hudson
Journal:  Genomics       Date:  1996-02-15       Impact factor: 5.736

Review 2.  Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.

Authors:  A G Motulsky
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

3.  Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

Authors:  L Campbell; A Potter; J Ignatius; V Dubowitz; K Davies
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

4.  Genotype-phenotype correlation in Duchenne/Becker muscular dystrophy patients seen at Lucknow.

Authors:  B Mittal; V Singh; S Mishra; S Sinha; R D Mittal; L S Chaturvedi; S Danda; S Pradhan; S S Agarwal
Journal:  Indian J Med Res       Date:  1997-01       Impact factor: 2.375

5.  Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors:  Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

6.  Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain.

Authors:  A Roddie; S Bundey
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

7.  Infraspinatus muscle hypertrophy and wasting of axillary folds as the important signs in Duchenne muscular dystrophy.

Authors:  S Pradhan; B Mittal
Journal:  Clin Neurol Neurosurg       Date:  1995-05       Impact factor: 1.876

  7 in total
  1 in total

Review 1.  Muscular dystrophies.

Authors:  Monisha Mukherjee; Balraj Mittal
Journal:  Indian J Pediatr       Date:  2004-02       Impact factor: 5.319

  1 in total

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