A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12

Annals of Neurology

Volumn 48, Issue 6, 2000, Pages 877-884

  Christodoulou, Kyproula ^a   Zamba, Eleni ^a   Tsingis, Marios ^a   Mubaidin, Amar ^c   Horani, Khalid ^c   Abu Sheik, Salem ^b   El Khateeb, Mohammed ^b   Kyriacou, Kyriacos ^a   Kyriakides, Theodoros ^a   Al Qudah, Abdel Karim ^b   Middleton, Lefkos ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b University Hospital   (Jordan)

^c KING HUSSEIN MEDICAL CENTER   (Jordan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 9P; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE COURSE; ELECTROMYOGRAPHY; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; JORDAN; MALE; MOTOR NERVE; NERVE BIOPSY; NERVE POTENTIAL; ONSET AGE; PRIORITY JOURNAL; SENSORY NERVE; SPINAL MUSCULAR ATROPHY; SURAL NERVE;

EID: 0033669436     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200012)48:6<877::aid-ana8>3.0.co;2-%23     Document Type: Article

References (26)

1. Hereditary distal spinal muscular atrophy. A report of 34 cases and a review of the literature
2. Inherited neuronal atrophy and degeneration predominantly of the lower motor neurons
3. A simple salting out procedure for extracting DNA from human nucleated cells
4. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
5. Faster sequential genetic linkage computations
6. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
7. Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24
8. Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis
9. Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease
10. Sensory axonopathy in hereditary distal spinal muscular atrophy
11. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
12. Hereditary inclusion body myopathy maps to chromosome 9p1-q1
13. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
14. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
15. Human chromosome 9 pericentric homologies: Implications for chromosome 9 heteromorphisms
16. Mechanisms of the origin of a G-positive band within the secondary constriction region of human chromosome 9
17. Molecular cytogenetic characterization of two types of chromosome 9 variants
18. Localization of the gene for the ciliary neurotrophic factor receptor (CNTFR) to human chromosome 9
19. Genomic organization and chromosomal localization of the human and mouse genes encoding the α receptor component for ciliary neurotrophic factor
20. The receptor for ciliary neurotrophic factor
21. Ciliary neurotrophic factor receptor expression in spinal cord and motor cortex in amyotrophic lateral sclerosis
22. Genetic variation in the ciliary neurotrophic factor receptor alpha gene and familial amyotrophic lateral sclerosis
23. Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth
24. A null mutation in the human CNTF gene is not casually related to neurological diseases
25. Disruption of the CNTF gene results in motor neuron degeneration