UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R
  • Publication date:
    12/2003
  • Pagination:
    2682, 2692
  • Journal:
    Brain
  • Volume:
    126
  • Issue:
    12
  • Print ISSN:
    0006-8950
  • Keywords:
    analysis, As, Association, atrophy, Axons, Biopsy, BIRTH, Birth Weight, BIRTH-WEIGHT, Brain, Carrier Proteins, case report, characteristics, classification, clinical, CORD, CRITERIA, DEFECT, DEVELOPED, diagnosis, DIAGNOSTIC CRITERIA, DIAGNOSTIC-CRITERIA, DISTRESS, DO, FAILURE, Female, functioning, GENE, GENE PRODUCT, GENE-PRODUCT, genetic, genetics, groups, Hereditary Motor and Sensory Neuropathies, Heterogeneity, histopathological, IM, IMMUNOGLOBULIN, infant, Infant, Newborn, Infantile, INFANTS, LA, literature, Low, Low birth weight, LOW-BIRTH-WEIGHT, Male, Muscle, Skeletal, Mutation, MUTATIONS, NEED, nerve, nerve conduction, Nerve Fibers, Myelinated, Neural Conduction, neuropathy, ONSET, Other, PALSY, pathology, Patient, patients, positive, product, PROTEIN, Proteins, relationship, report, RESPIRATORY, Respiratory Distress Syndrome, Respiratory Paralysis, RESPIRATORY-FAILURE, SINGLE, size, spinal cord, Spinal Muscular Atrophies of Childhood, SPINAL MUSCULAR ATROPHY, Sural Nerve, TYPE-1, VELOCITY, WEIGHT
  • Notes:
    DA - 20031110 IS - 0006-8950 LA - eng PT - Case Reports PT - Journal Article RN - 0 (Carrier Proteins) RN - 0 (IGHMBP2 gene product) SB - AIM SB - IM
Abstract
No abstract found
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Department of Neuromuscular Diseases
Author
UCL GOS Institute of Child Health
Author
Department of Neuromuscular Diseases
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by