Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

Brain

Volumn 126, Issue 12, 2003, Pages 2682-2692

  Pitt, Matthew ^a   Houlden, Henry ^b   Jacobs, Jean ^b   Mok, Quen ^a   Harding, Brian ^a   Reilly, Mary ^b   Surtees, Robert ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Diaphragmatic weakness; Infantile neuropathy; Peripheral nervous system diseases; Respiratory insufficiency; Respiratory paralysis

Indexed keywords

BINDING PROTEIN; IMMUNOGLOBULIN MU BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CELL SIZE; CELL SURVIVAL; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAPHRAGM PARALYSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC CORRELATION; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; INFANT; MALE; MOTOR NERVE; MOTOR NERVE CONDUCTION; MYELINATED NERVE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NERVE BIOPSY; NEUROPATHOLOGY; NEUROPHYSIOLOGY; PRIORITY JOURNAL; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; SURAL NERVE; VERY LOW BIRTH WEIGHT; WERDNIG HOFFMANN DISEASE;

AXONS; BRAIN; CARRIER PROTEINS; DNA-BINDING PROTEINS; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; MUTATION; NERVE FIBERS, MYELINATED; NEURAL CONDUCTION; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RESPIRATORY PARALYSIS; SPINAL CORD; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURAL NERVE; TRANSCRIPTION FACTORS;

EID: 0345306176     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg278     Document Type: Article

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