Горбунова В.Н., Савельева-Васильева Е.А., Красильников В.В. Молекулярная неврология. Заболевания нервно-мышечной системы
Подождите немного. Документ загружается.
Gal A., Mucke J., Theile H. et al. X-linked dominant Charcot-Marie-Tooth
disease: suggestion of linkage with a cloned DNA sequence from
proximal Xq// Hum. Genet. 1985. Vol. 70. P. 38—42.
Gautam M., Noakes P. G., Mudd J. et al. Failure of postsynaptic
specialization to develop at neuromuscular junctions of rapsyn-
deficient mice// Nature. 1995. Vol. 377. P. 232—236.
Gautron C, Daegelen D.
f
Mennecier F. et al. Molecular mechanisms of
McArdle's disease (muscle glycogen phosphorylase deficiency)//
J. Clin. Invest. 1987. Vol. 79. P. 275—281.
Gavrilov D. K., Shi X., Das K., Gilliam Т. C, Wang С. H. Differential SMN2
expression associated with SMA severity// Nature Genet. 1998.
Vol. 20. P. 230—231.
Gee S. H., Montanaro R, Lindenbaum M. H., Carbonetto S. Dystroglycan-
alpha, a dystrophin-associated glycoprotein is a functional agrin
receptor// Cell. 1994. Vol. 77. P. 675—686.
George A. L, Ledbetter D. H.
f
Kallen R. G., Barchi R. L. Assignment of
a human skeletal muscle sodium channel alpha-subunit gene
(SCN4A) to 17q23.1-25.3//Genomics. 1991. Vol. 9. P. 555—556.
George A. L, Komisarof J., Kallen R. G., Barchi R. L. Primary structure
of the adult human skeletal muscle voltage-dependent sodium
channel//Ann. Neurol. 1992. Vol. 31. P. 131—137.
George A. L, Crackower M. A., Adballa J. A. et al. Molecular basis of
Thomsen's disease (autosomal dominant myotonia congenita)//
Nature Genet. 1993. Vol. 3. P. 305—310.
Gesemann M.
f
Cavalli V, Denzer A. J. Alternative splicing of agrin alters
its binding to heparin, dysroglycan, and the putative agrin rece-
ptor// Neuron. 1996. Vol.16. P. 755—767.
Giannelli, F. Theoretical expectations for deletional mutations in
Duchenne muscular dystrophy//Am. J. Med. Genet. 1988. Vol. 31.
P. 991—992.
Gilbert J. R., Stajich J. M., Wall S. et al. Evidence for heterogeneity in
facioscapulohumeral muscular dystrophy (FSHD)// Am. J. Hum.
Genet. 1993. Vol. 53. P. 401—408.
Gilbert R., et al. Efficient utrophin expression following adenovirus gene
transfer in dystrophic muscle// Biochem. Biophys. Res. Com. 1998.
Vol. 242. P. 244—247.
271
Ginjaar H. В., Bakker Е., Dunnen J. Т. et al. Immunological study of
dystrophin in Duchenne fetus// Lancet. 1989. Nov. 18. P. 1212—
1213.
Goebrl H. H., Anderson J. R.
f
Hubner C. et al. Congenetal myopathywith
excess of thin filaments//Neuromusc. Disord. 1997. Vol. 7. P. 160—
168.
Goldfarb L. G., Park K.-Y, Cervenakova S. et al. Missense mutations in
desmin associaed with familial cardiac and skeletal myopathy//
Nature Genet. 1998. Vol. 19. P. 402—403.
Goonewardena P., Welihinda J., Anvert M. et al. A linkage study of the
locus for X-linked Charcot-Marie-Tooth disease// Clin. Genet. 1988.
Vol. 33. P. 435—440.
Gorecki D. C, Monaco A. P., Deny J. M. J. Expression of four alternative
dystrrophin transcripts in brain regions regulated by different
promoteers//Hum. Mol. Genet. 1992. Vol.1 (7). P. 505—510.
Goto Y, No пака l.
f
Horai S. A mutation in the tRNA-leu (UUR) gene
associated with the MELAS subgroup of mitochondrial
encephalomyopathies// Nature. 1990. Vol. 348., P. 651—653.
Goto Y., Horai S. Matsuoka T. et al. Mitochondrial myopathy,
encephalomyopathy, lactic acidosis, and stroke-like episodes
(MELAS): of a correlative study of the clinical features and
mitochondrial DNA mutation// Neurology. 1992. Vol. 42. P. 545—
550.
Gourdon G., Radvanyi F., Lia A.-S. et al. Moderate intergenerational
and somatic instability of a 55-CTG repeat in transgenic mice//
Nature Genet. 1997. Vol. 15. P. 190—192.
Grady R. M., Teng H., Nichol M. C. et al. Skeletal and cardiac myopathies
in mice lacking utrophin and dystrophin: a model for Duchenne
muscular dystrophy//Cell. 1997a. Vol.90. P. 729—738.
Grady R. M., Merlie J. P., Sanes J. R. Subtle neuromuscular defects in
utrophin-deficient mice//J. Cell Biol. 1997b. Vol. 136. P. 871—882.
Greenberg D. S., Sunada Y., Campbell K. P., Yaffe D., Nudel U.
Exogenous Dp71 restores the dystrophin associated proteins but
does not alleviate muscle damage in mdx mice// Nature Genet. 1994.
Vol. 8. P. 340—344.
Greenberg D. S.
f
Schatz Y, Levy Z. et al. Reduced levels of dystrophin
associated proteins in the brain of mice deficient for Dp71// Hum.
Mol. Genet. 1996. Vol. 5. P. 1299—1301.
272
Grether M. E., Abrams J. M., Agapite J., White K., Steller H. The head
involution defective gene of Drosophila melanogaster functions in
programmed cell death// Genes Develop. 1995. Vol. 9. P. 1694—
1708.
G riff its L. R.
f
Zwi M. В., McLeod J. G., Nicholson G. A. Linkage studies
on Charcot-Marie-Tooth neuropathy type Ml (Abstr.) Cytogenet. Cell
Genet. 1987. Vol. 46. P. 624 only.
G riff its L. R., Zwi M. В., McLeod J. G., Nicholson G. A. Chromosome I
linkage studies in Charcot-Marie-Tooth neuropathy type Ml Am. J.
Hum. Genet. 1988. Vol. 42. P. 756—771.
Guern E., Magi S.
f
Parry G. et al. New connexin 32 mutations associated
with X-linked Charcot-Marie-Tooth disease// Neurology. 1995,
Vol.45. P. 1863—1866.
Guiloff R. J., Thomas P. K., Contreras M. et al. Evidence for linkage of
type I hereditary motor and sensory neuropathy to the Daffy locus
on chromosome 1//Ann. Hum. Genet. 1982, Vol. 46. P. 25—27.
Guimera J., Casas C, Pucharcos C. et al. A human homologue of
Drosophila minibrain (MNB) is expressed in the neuronal regions
affected in Down syndrome and maps to the critical region// Hum.
Mol. Genet. 1996. Vol. 5. P. 1305—1310.
Haan E. A., Freemantle C. J., McCure J. A., Friend K. L., Mulley J. C.
Assigment of the gene for central core desease to chromosome
19// Hum. Genet. 1990. Vol. 86. P. 187—190.
Hahnen E., Schonling J., Rudnik-Schoneborn S. et al. Missence
mutations in exon 6 of the survival motor neuron gene in patients
with spinal muscular atrophy (SMA)//Hum. Mol. Genet. 1997. Vol. 6.
P. 821—825.
Harding A. E., Petty R. К. H., Morgan-Hughes J. A. et al. Mitochondrial
myopathies: a genetic study of 71 cases// J. Med. Genet. 1988.
Vol. 25. P. 528—535.
Harley H. G., Brook J. D., Flojd J. et al. Detection of linkage disequilibrium
between the myotonic dystrophy locus and anew polymorphic DNA
marker// Am. J. Hum Genet. 1991. Vol. 49. P. 68—75.
Harley H. G., Brook J. D., Rundle S. A. et al. Expansion of an unstable
DNA region and phenotypic variation in myotonic dystrophy// Nature.
1992. Vol. 355. P. 545—546.
18 Заказ № 170
273
Harris S.
f
Moncrieff C, Johnson K. Myotonic dystrophy: will the real
gene please step forward Ml Hum. Mol. Genet. 1996. Vol. 5.
P. 1417—1423.
Hayasaka K., Himuro M., Wang Y. et al. Structure and chromosomal
localization of the gene encoding the human myelin protein zero
(MPZ)//Genomics. 1993a. Vol. 17. P. 755—758.
Hayasaka K., Himuro M., Sato W. et al. Charcot-Marie-Tooth neuropathy
type IB is assotiated with mutations of the myelin P(O) gene// Nature
Genet. 1993b. Vol. 5. P. 31—34.
Hayashi Y. K.
f
Chou F.-L, Engvall E. et al. Mutations in the integrin alpha7
gene cause congenetal myopathy// Nature Genet. 1998. Vol. 19.
P. 94—97.
Hentati A., Lamy C, Melki J. et al. Clinical and genetic heterogeneity of
Charcot-Marie-Tooth disease// Genomics. 1992a. Vol. 12. P. 155—
157.
Hentati A., Bejaoui K., Pericak-Vance M. A. et al. The gene locus for one
from of juvenile amyotrophic lateral sclerosis maps to hromosome
211 (Abstr.) Am. J. Hum. Genet. 1992b. Vol. 51 (suppl.). P. A33 only.
Hentati A., Bejaoui K., Pericak-Vance M. A. et al. Linkage of recessive
familial amyotrophic lateral sclerosis to chromosome 2q33-q35//
Nature Genet. 1994. Vol. 7. P. 425—428.
Helbling-LeclercA.,fehang X.,Topaloglu H. et al. Mutations in the laminin
alpha 2-chain gene (LAMA2) cause merosin-deficient congenetal
muscular dystrophy// Nature Genet. 1995. Vol. 11. P. 216—218.
Heringham W. P. Muscular atrophy of the perioneal type affecting many
members of a family// Brain. 1889. Vol. 11. P. 230—236.
Hewitt J. E., Lyle R.
f
Clark L. H. et al. Analysis of the tandem repeat
locus D4Z4 associated with facioscapulohumeral muscular
dystrophy//Hum. Mol. Genet. 1994. Vol. 3. P. 1287—1295.
Hillaire D., Leclerc A., Faure S., et al. Localization of mersoin-negative
congential muscular dystrophy to chromosome 6q2 by homozygosity
mapping//Hum. Mol. genet. 1994. Vol. 3. P. 1657—1661.
Holt I. L., Harding A. E.
f
Morgan-Hughes J. A. et al. Deletions of muscle
mitochondrial DNA in patients with mitochondrial myopathies//
Nature. 1988. Vol. 331. P. 717—719.
274
Hoogendijk J. R, Hensels G. W., Gabreels-Festen A.A.W.M. et al. De
novo mutation in hereditary motor and sensory neuropathy type
Ml Lancet. 1992. Vol. 339. P. 1081—1082.
Hoogendijk J. E., Janssen E. A. M.
f
Gabreels-Resten A. A. W. M. et al.
Allelic heterogeneity in hereditary motor and sensory neuropathy
type 1a (Charcot-Marie-Tooth disease type la)// Neurology. 1993.
Vol. 43. P. 1010—1015.
Howard P. L., Dally G. Y, Wong M. H. et al. Localization of dystrophin
isoform Dp71 to the inner limiting membrane of the retina suggests
a unique functional contribution of Dp71 in the retina// Hum. Mol.
Genet. 1998. Vol. 7. P. 1385—1391
Hu L. J.
f
Laporte J., Kress W. et al. Deletion in Xq28 in two boys with
myotubular myopathy and abnormal genital development define a
new contiguous gene syndrome in a 430 kb region// Hum. Mol.
Genet. 1996. Vol. 5. P. 139—143.
Ни X., Burghes A. H. M., Bulman D. E., Ray P. N., Worton R. G. Evidence
for mutation by unequal sister chromatid exchange in the Duchenne
muscular dystropy gene// Ami. J. Hum. Genet. 1989. Vol. 44.
P. 855—863.
HurkoO., Hoffman E. P., McKee L.
f
Jhons D. R., Kunkel L. M. Dystrophin
analysis in clonal myoblasts derived from a Duchenne muscular
dystrophy carrier//Am. J. Hum. Genet. 1989. Vol. 44. P. 820—826.
Huxley C, Passage E., Manson A. et al. Construction of a mouse model
of Charcot-Marie-Tooth disease type 1A by pronuclear injection of
human YAC DNA// Hum. Mol. Genet. 1996. Vol. 5. P. 563—569.
Huxley C, Passage E., Robertson A. M.
f
Youl B. Correlation between
varying levels of PMP22 expression and the degree of demyelination
and reduction in nerve conduction velocity in transgenic mice// Hum.
Mol. Genet. 1998. Vol. 7. P. 449—458
Ibragimov-Beskrovnaya O., Ervasti J.M., Leveille C.J. et al. Primary
structure of dystrophin-asociated glycoproteins linking dystrophin
to the extracellular matrix// Nature. 1992. Vol. 355. P. 696—702.
Ibragimov-Beskrovnaya O., Milatovich A., Ozcelik T. et al. Human
dystroglycan: sceletal muscle cDNA, genomic structure, origin of
tissue-specific forms and chromosomal localization// Hum. Mol.
Genet. 1993. Vol. 2. P. 1651—1657.
275
Im W. В., Phelps S. F., Copen E. H. et al. Differential expression of
dystrophin isoforms in strains of mdx mice with different muta-
tions// Hum. Mol. Genet. 1996. Vol 5. P. 1149—1153.
lonasescu V. V., Trofatter J., Haines J. L. et al. X-linked recessive
Charcot-Marie-Tooth neuropathy: clinical and genetic study// Muscle
Nerve. 1992. Vol. 15. P. 368—373.
lonasescu V. V, lonasescu R., Searby C. Screening of dominantly
inherited Charcot-Marie-Tooth neuropathy// Musle Nerve. 1993.
Vol. 16. P. 1232—1238.
lonasescu V. V. Charcot-Marie-Tooth neuropathy: from clinical description
to molecular genetics// Musle Nerve. 1995. Vol. 18. P 267—275.
lonasescu V., Searby C, Sheffield V. C. et al. Autosomal dominant
Charcot-Marie-Tooth axonal neuropathy mapped on chromosome
7p (CMT2D)//Hum. Mol. Genet. 1996. Vol. 5. P. 1373—1375.
Isozumi K., DeLong R., Kaplan J. et. al. Linkage of scapuloperoneal
spinal muscular atrophy to chromosome 12q24.1-q24.31//Hum. Mol.
Genet. 1996. Vol. 5. P. 1377—1382.
Iwasaki H., Stewart P. W., Dilley W. G. et al. A minisatellite and
microsatellite polymorphism within 1.5 kb at the human muscle
glycogen phosphorylase (PYGM) locus can be amplified by PCR
and have combined informativeness of PIC 0.95// Genomics. 1992.
Vol. 13. P. 7—15.
Jaksch M., et al. A systematic mutation screen of 10 nuclear and 25
mitochondrial candidate genes in21 patients with cytochrome с
pxydase (COX) deficiency shows tRNA
(Ser)(UCN)
mutations n subgroup
with syndromal encephalopathy// J. Med. Genet. 1998. Vol. 35.
P. 895—900.
Jansen G., Mahadevan M., Amemia C. et al. Characterization of the
myotonic dystrophy region predicts multiple protein isoform-
encoding mRNAs// Nature Genet. 1992. Vol. 1. P. 261—238.
Jansen G., Bachner D., Coerwinkel M. et al. Structural organization and
developmental expression pattern of the mouse Wd-repeat gene
Dmr-N9 immediately upstream of the myotonic dystrophy// Hum.
Mol. Genet. 1995. Vol. 4. P. 843—852.
Jansen G., Groenen P. J. T. A., Bachner D. et al. Abnormal myotonic
dystrophy protein kinase levels produce only mild myopathy in
mice// Nature Genet. 1996. Vol. 13. P. 316—324.
276
Jardine P. E.,Upadhyayava M., Maynard J., et al. A scapular onset
muscular dystrophy without facial involement: possible allelism with
facioscapulohumeral muscular dystrophy// Neuromusc. Disord.
1994. Vol. 4. P. 477—482.
Jobsis G. J., Barth P. G., Boers J. M. et al. Bethlem myopathy: clinical
and genetic aspects// Neurology. 1995. Vol. 45. P. 881 S.
Jobsis G. J., Barth P. G., Boers J. M. et al. Genetic localization of Bethlem
myopathy// Neurology. 1996a. Vol. 46. P. 779—782.
Jobsis G. J., Keizers H., Vreijling J. P. et al. Type VI collagen mutations
in Bethlem myopathy, an autosomal dominant myopathy with
contractures// Nature Genet. 1996b. Vol. 14. P. 113—115.
Johns D. R., Rutledge S. L, Stine О. C, Hurko O. Direct repeated
sequences associated with pathogenic of mitochondrial DNA
deletions// Proc. Natl. Acad. Sci. 1989. Vol. 86. P. 8059—8062.
Jones С. Т., Brock D. J. H., Chancellor A. M., WArlow C. P., Swingler
R. J. Cu/Zn superoxide dismutase (SOD1) mutations and sporadic
amyotrophic lateral sclerosis// Lancet. 1993. Vol. 342. P. 1050—
1051.
Jurkat-Rott K., Lehmann-Horn R, Elbaz A. et al. A calcium channel
mutation causing hypokalemic periodic paralysis// Hum Mol. Genet.
1994. Vol.3. P. 1415—1419.
(
Kameya S., Araki E., Katsuki M. et al. Dp260 disrupted mice revealed
prolonged implicit time of the b-wave in ERG and loss of
accumulation of [beta]-dystroglycan in the outer plexiform layer of
the retina//Hum. Mol. Genet. 1997. Vol. 6. P. 2195—2203
Kaush K.
f
Lehmann-Horn R, Janka M. et al. Evidence for linkage of the
central core desease locus to the proximal long arm of human
chromosome 19//Genomics. 1991. Vol. 10. P. 765—769.
Klamut H. J., Bosnoyan-Collins L. O., Worton R. G., Ray P. N., Davis H. L.
Identification of a transcriptional enhancer within muscle intron 1 of
the human dystrophin gene// Hum. Mol. Genet. 1996. Vol. 5.
P. 1599—1606.
Klein C. J., Coovert D. D., Bulman D. E. et al. Somatic reversion/
suppression Duchenne muscular dystrophy (DMD): evidence
supporting a frame-restoring mechanism in rare dystrophin-positive
fibers//Am. J. Hum. Genet. 1992. Vol. 50. P. 950—959.
277
Klesert Т. R., Otten A. D., Bird T. D. et al. Trinucleotide repeat expansion
at the myotonic dystrophy locus reduces expression of DMAHP//
Nature Genet. 1997. Vol. 17. P. 402—406.
Koch M. C, Ricker K., Otto M. et al. Confirmation of linkage of
hyperkalemic periodic paralysis to chromosome 17//J. Med. Genet.
1991.28. P. 583—586.
Koch M. C, Steinmeyer K.
f
Lorenz C. et al. The skeletal muscle chloride
channal in dominant and recessive human myotonia//Science. 1992.
Vol. 257. P. 797—800.
Koch M. C, Ricker K., Otto M. et al. Evidence for genetic homogeneity
in autosomal recessive generalized myotonia (Becker)// J.Med.
Genet. 1993. Vol. 30. P. 914—917.
Koch M. C, Baumbach K., George A. L, Ricker K. Paramyotonia
congenita without paralysis on exposure to cold: a novel mutation
in the SCN4A gene (Val1293lle)// Neuroreport. 1995. Vol. 6.
P. 2001—2004.
Koenig M., Beggs A. H., Moyer M. et al. The molecular basis for
Duchenne versus Becker muscular dystropy: correlation with type
of deletion//Am. J. Hum. Genet. 1989. Vol. 45. P. 498—506.
Koenig M., Hoffman E. P., Bertolsln C. J. et al. Complete cloninig of the
Duchenne muscular dystrophy (DMD) cDNA and preliminary
genomic organization of the DND gene in normal and affected
individuals// Cell. 1987. Vol. 50. P. 509—517.
Koenig M.
f
Monaco T, Kunkel L.M. The complete sequence of dystropin
predicts a rod-shaped cytoskeletal protein// Cell. 1988. Vol. 53.
P. 219—228.
koob M. D., Moseley M. L, Schut L. J. et al. An untraslated CTG
expansion causes a novel form of spinocerebellar ataxia (SCA8)//
Nature Genet" 1999. Vol. 21. P. 379—384.
Kubisch C, Schmidt-Rosel T, Fontaine B. et al. CIC-1 chloride channel
mutations in myotonia congenita: variable penetrance of mutations
shifting the voltage dependence// Hum. Mol. Genet. 1998. Vol. 7.
P. 1753—1760
Kulkens T, Bolhuis P. A., Wolterman R. A. et al. Deletion of the serin 34
codon from the major peripheral myelin protein P(O) gene in Charcot-
Marie-Tooth disease type IB// Nature Genet. 1993. Vol. 5. P. 35—
39.
278
Kumar-Singh R., Chamberlain J. S. Encapsidated adenovirus
minichromosomes allow delivery and expression of a 14 kb
dystrophin cDNAto muscle cells// Hum. Mol. Genet. 1996. Vol. 5.
P. 913—921.
Kunkel L. M.
f
Monaco A. P., Middlesworth W., Ochs H. D., Latt S. A.
Specific cloning of DNA fragments absent from the DNA of a male
patient with an X chromosome deletion// Proc. Natl. Acad. Sci. 1985.
Vol. 82. P. 4778—4782.
Kunst С. В., Mezey E., Browstein M. J., Patterson D. Mutations in SOD1
associated with amyotrophic lateral sclerosis cause novel protein
interactions// Nature Genet. 1997. Vol. 15. P. 91—94.
Kwon J. L, Elliott J. L, Woon-chee Y. et al. Assignment of a second
Charcot-Marie-Tooth type II locus to chromosome 3q//Am. J. Hum.
Genet. 1995. Vol. 57. P. 853—858.
Laing N. G., Majda В. T, Akkari P. A. et al. Assignment of a gene (NEM1)
for autosomnal dominant nemaline myopathy to chromosome 1//
Am. J. Hum. Genet. 1992. Vol. P. 50, 576—583.
Laing N. G.
f
Wilton S. D., Akkari P. A. et al. A mutation in the alpha
tropomyosin gene ТРМЗ associated with autosomal dominant
nemaline myopathy// Nature Genet.. 1995. Vol. 9,. P. 75—79.
Lakich D., Kazazian H. H., Antonarakis St. E., Gitschier J. Inversion
disrupting the factor VIII gene are common cause of sever
haemophilia N1 Nature Genet. 1993. Vol. 5. P. 236—241.
Lalvani A. K., Brister J. R., Fex J. et al. A new nonsyndromic X-linked
sensorineural hearing inpairment linked to Xp21.2//Am.J. Hum.
Genet. 1994. Vol. 55. P. 685—694.
Lamandi S. R., Bateman J. F.
f
Hutchison W. et al. Reduced collagen VI
causes Bethlem myopathy: a heterozygous COL6A1 nonsense
mutation results in mRNA decay and functional haploinsufficien-
cy// Hum. Mol. Genet. 1998. Vol. 7. P. 981—989
Land J. M., Morgan-Hughes J. A., Clark J. B. et al. Mitochondrial
myopathies: biochemical studies revealing a deficiency of NADH-
cytochrome b reductase activity// J. Neurol. Sci. 1981. Vol. 50.
P. 1—13.
Laporte J.
f
Hu L. J., Kretz C. et al. A gene mutated in X-linked myotubular
myopathy defines a new putative tyrosine phosphatase family
conserved in yeast// Nature Genet. 1996. Vol. 13. P. 175—182.
279
Laporte J., Guiraud-Chaumeil C, Vincent M.-C. et al. Mutations in the
MTM1 gene implicated in X-linked myotubular myopathy// Hum. Mol.
Genet. 1997. Vol. 6. P. 1505—1511.
Laporte J., Blondeau F., Buj-Bello A. et al. Characterization of the
myotubularin dual specificity phosphatase gene family from yeast
to human// Hum. Mol. Genet. 1998. Vol. 7. P. 1703—1712
Lebo R. V., Gorin F., Fletterick R. J. et al. High-resolution chromosome
sorting and DNA spot-blot analysis assign McArdle's syndrome to
chromosome 11//Science. 1984. Vol. 225. P. 57—59.
Lebo R. V. and 39 others. Chromosome I Charcot-Marie-Tooth locus in
Fc-gamma-RII gene region// (Abstr.). Am. J. Hum. Genet. 1989.
Vol. 45 (suppl.). P.A148 only.
Lebo R. V, Anderson L. A., DiMauro S. et al. Rare McArdle disease
locus polymorphic site on 11q13 contains CpG sequence// Hum.
Genet. 1990. Vol. 86. P. 17—24.
Lebo R. V, Lynch E. D., Wiegant J. et al. Multicolor fluorescence in situ
hibridization and pulsed field electrophoresis dissect CMT1В gene
region// Hum. Genet. 1991. Vol. 88. P. 13—20.
Lebo R. V., Lynch E. D., Bird T. D. et al. Multicolor in situ hibridization
and linkage analysis order Charcot-Marie-Tooth type I (CMT1A)
gene-region markers//Am. J. Hum. Genet. 1992. Vol. 50. P. 42—
55.
Lederfein D., Levy Z., Augier N. et al. A 71-kilodalton protein is a
Duchenne muscular dystrophy gene major product of the in brain
and other nonmuscle tissue// Proc. Natl. Acad. Sci. 1993a. Vol. 89.
P. 5346—5350.
Lederfein D.
f
Yaffe D., Nudel U. A housekeeping type promotor, located
in the 3-prime region of the Duchenne muscular dystrophy gene,
controls the expression of Dp71, a major product of the gene// Hum.
Mol. Genet. 1993b. Vol. 2. P. 1883—1888.
Lefebvre S., Burglan L., Reboullet S. et al. Identification and
characterization of a spinal muscular atrophy-determining gene//
Cell. 1995. Vol. 80. P. 165—185.
Lefebvre S., Bbrglen L., Frfiza J. et al.The role of the SMN gene in
proximal spinal muscular atrophy// Hum. Mol. Genet. 1998. Vol. 7.
P. 1531—1536.
LeGuern E., Sturtz F, Gugenheim M. et al. Detection of deletion within
17p11.2 in 7 French families with hereditary neuropathy with liability
280