Hereditary motor and sensory neuropathy Lom

Acta Myologica

Volumn 20, Issue DEC., 2001, Pages 192-201

  Kalaydjieva, Luba ^a   King, R ^a   Gresham, D ^a   Molnar, M ^a   Tournev, I ^a   Angelicheva, D ^a   Butinar, D ^a   Colomer, J ^a   Corches, A ^a   Lupu, C ^a   Merlini, L ^a   Zanetti, M ^a   Bergonzoni, C ^a   Thomas, P K ^a  

^a EDITH COWAN UNIVERSITY   (Australia)

Author keywords

Charcot Marie; HMSN; NDRG1; Tooth disease

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BULGARIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING DISEASE; ETHNOLOGY; EUROPE; FEMALE; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GIPSY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; NERVE BIOPSY; NERVE FIBER; NEUROPATHOLOGY; ONCOGENE C MYB; PATHOGENESIS; SCHOOL CHILD; SCHWANN CELL; STOP CODON;

EID: 0035719170     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
2. Gene mapping in Gypsies identifies a novel demyelinating-neuropathy on chromosome 8q24
3. Hereditary motor and sensory neuropathy-Lom (HMSNL), a novel demyelinating neuropathy associated with deafness in Gypsies: Clinical, electrophysiological and nerve biopsy findings
4. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family
5. HMSNL in a 13-year-old Bulgarian girl
6. Hereditary auditory, vestibular, motor and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
7. Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: Clinical, electrophysiological, pathological and genetic studies
8. Hereditary motor and sensory neuropathy - Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries
9. Initial sequencing and analysis of the human genome
10. N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
11. The use of PIPES buffer in the fixation of mammalian and marine tissues for electron microscopy
12. A new technique for the rapid screening and selection of large pieces of tissue for ultrastructural evaluation
13. The use of potassium ferricyanide in neural fixation
14. Basic two-dye stains for epoxy-embedded 0.3-1μ sections
15. The PROSITE database, its status in 1999
16. The Pfam protein families database
17. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom
18. An electron microscopic study of dystrophic axons in the gracile and cuneate nuclei of vitamin E-deficient rats: Axonal dystrophy in vitamin E deficiency
19. Experimental vitamin E deficiency in rats. Morphological and functional evidence of abnormal axonal transport secondary to free radical damage
20. Characterization of the human NDRG gene family: A newly identified member, NDRG4, is specifically expressed in brain and heart
21. Ni(II) and Cu(II) binding with a 14-aminoacid sequence of Cap43 protein, TRSRSHTSEGTR SR
22. α/β Hydrolase fold enzymes: The family keeps growing
23. Phosphorylation of RTP, an ER stress-responsive cytoplasmic protein
24. Origins and divergence of the Roma (Gypsies)
25. Neural architecture in transected rabbit sciatic nerve after prolonged nonreinnervation
26. The fate of Schwann cells isolated from axonal contact
27. The phenotypic manifestations of chromosome 17pl 1.2 duplication
28. Hypertrophic neuropathy: Atypical appearances resulting from the combination of type I hereditary motor and sensory neuropathy and diabetes mellitus
29. Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice
30. Abnormal Schwann cell-axon interactions in CMT neuropathies. The effect of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination
31. Distal axonopathy in peripheral nerves of PMP22-mutant mice
32. A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms
33. Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage
34. Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth-arrested cells
35. Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis
36. Identification of a stress-induced protein during human trophoblast differentiation by differential display analysis
37. N-myc-dependent repression of Ndr1, a gene identified by direct subtraction of whole mouse embryo cDNAs between wild type and Nmyc mutant
38. Sural nerve morphometry in diabetic autonomic and painful sensory neuropathy
39. Qualitative and quantitative morphology of human sural nerve at different ages