Горбунова В.Н., Савельева-Васильева Е.А., Красильников В.В. Молекулярная неврология. Заболевания нервно-мышечной системы

Подождите немного. Документ загружается.

Roberts R. G., Coffey A. G., Bobrow M., Bentley, D. R. Exon structure

of the human dystrophine gene//Genomics. 1993. Vol. 16. R 1—3.

Roberts R. G., Freeman Т. C, Kendall E. et al. Characterization of DPR2,

a novel human dystrrophin homologue// Nature Genet. 1996.

Vol. 13. P. 223—226.

Roberts R. G.

Bobrow M. Dystrophins m vertebrates and

invertebrates//Hum. Mol. Genet. 1998. Vol.7. P. 589—595.

Rodrigues N. R., Owen N.. Talbot K. et al. Gene deletion in spinal

muscular atrophy//J. Med. Genet. 1996. Vol. 33. P. 93—96.

Rothstein J. D., Martin L. J., Kuncel R. W. Decreased glutamate transport

by the brain and spinal cord in amyotrophic lateral sclerosis// New

Engl. J. Med. 1992. Vol. 326. P. 1381—1384.

Roy N.

Mahadevan M. S.

McLeon M. et al. The gene for neuronal

apoptosis inhibitory protein is partially deleted in individuals with

spinal muscular atrophy//Cell. 1995. Vol. 80. P. 167—178.

Rudolph J. A., Spier S. J., Byrns G. et al. Periodic paralysis in Quarter

horses: a sodium channel mutation dessemeneited by selective

breeding Nature Genet. 1992. Vol. 2. P. 144—147.

Sabina R. L, Morisaki Т., Clarke P. et al. Characterization of the human

and rat myoadenylat deaminase genes// J. Biol. Chem. 1990.

Vol. 265. P. 9423—9433.

Sadoulet-Puccio H. M., KhuranaT. S., Cohen J. В., Kunkel L. M. Clonning

and characterization of the human homologue of the dystrophin-

related phosphoprotein found at the Torpedo electric organ post-

synaptic membrane// Hum. Mol. Genet. 1996. Vol. 5 P. 489—496.

Sarfarazi M., Wijmenga C, Upadhyayava M. et al. Regional mapping of

facioscapulohumeral muscular dystrophy gene on 4q35: combined

analysis an international consortium//Am. J. Hum. Genet. 1992.

Vol. 51. P. 396—403.

Scharf J. M.

Endrizzi M. G., Wetter A. Identification of a candidate

modifiying gene for spinal muscular atrophy by comparative

genomics// Nature Genet. 1998. Vol. 20. P. 83—86.

Schneider C, King R. M., Philipson L. Genes specificallyy expressed at

growth arest of mammalian cells// Cell. 1988. Vol. 54. P. 787—793.

Schoffner J. M., Wallace D. C. Oxidative phosphorilation diseases// In:

ScriverC. R., BeaudetA. L, Sly W. S., Valle D. (eds).The Metabolic

291

and Molecular Bases of Inherited Disease. 1995. McGraw-Hill.N.-

Y. Vol. 1. P. 1535—1609.

Schwartz M., Sorensen N., Hansen F. J. et al. Quantification, by solid-

phase minisequencing, of the telomeric and centromeric copies of

the survival motor neuron gene in families with spinal muscular

atrophy// Hum. Mol. Genet. 1997. Vol .6. P. 99—104.

Sealock R., Froehner S. C. Dystrophin-associated proteins and synapse

formation: is a-dystroglycan the agrin receptor?// Cell. 1994. Vol. 77.

P. 617—619.

Sewry C. A., Sansome A., Matsumura K., Campbell K. P., Dubowitz V.

Deficiency of the 50 kDa dystrophin-associated glycoprotein and

abnormal expression of utrophin in two South Asian cousins with

variable expression of severe childhood autosomal recessive

muscular dystrophy// Neuromusc. Disord. 1994. Vol. 4. P. 121—

129.

Shaw D. A., McCurach M. E., Rundle S. A. et al. Genomic organization

and transcriptional units at the myotonic dystrophy locus// Genomics.

1993. Vol. 18. P. 673—679.

Shanske S., Sakoda S., Hermodson M.A., DiMauro S., Schon E. A.

Isolation of a cDNA encoding the muscle-specific subunit of human

phosphoglycerate mutase// J. Biol. Chem. 1987 Vol. 262.

P. 14612—14617.

Shoubridge E. A., Johns Т., KarpatM G. Complete restoration of a

wild-type mtDNA genotype in regenerating muscle fibres in a

patient with a tRNA point mutation and mitochondrial encephalo-

myopathy// Hum. Mol. Genet. 1998. Vol. 7. P. 2239—2242.

Siddique Т., Pericak-Vance M. A., Brooks B. R. et al. Genetic linkage

analysis in familial amyotrophic lateral sclerosis// (Abstr.) Cytogenet.

Cell Genet. 1989. Vol. 51. P. 1080 only.

Siddique Т., Figlewicz D. A., Pericak-Vance M. A. et al. Linkage of a

gene causing familial amyotrophic lateral sclerosis to chromosome

21 and evidence of geneticlocus heterogeneity// New Engl. J. Med.

1991. Vol. 324. P. 1381—1384.

Siddique Т., Deng H-X. Genetics of amiotrophic lateral sclerosis// Hum.

Mol. Genet. 1996. Vol. 5. P. 1465—1470.

Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's

disease// Clin.Genet. 1974. Vol. 6. P. 98—118.

292

Slipetz D. M., Aprille J. R., Goodyer R R., Rozen R. Deficiency of complex

III of the mitochondrial respiratory chain in a patient with

facioscapulohumeral desease//Am. J. Hum. Genet. 1991. Vol. 48.

P. 502—510.

Small K., Iber J., Warren S. T. Emerin deletion reveals a common X-

chromosome inversion mediated by inverted repeats// Nature Genet.

1997. Vol. 16. P. 96—99.

Small K., Warren S. T. Emerin deletions occurring on both Xq28 inversion

backgrounds// Hum. Mol. Genet. 1998. Vol. 7. P. 135 139.

Smith F. J. D., Eady R. A. J., Leigh I. M. et al. Plectin deficiency results

in muscular dystrophy with epidermolysis bullosa// Nature Genet.

1996. Vol. 13. P. 450—457.

Sosinsky G. Mixing of connexins in gap junction membrane channels.//

Proc. Natl. Acad. Sci. 1995. Vol. 92. P. 9210—9214.

Speer M. C, Tandan R., Rao P. N. et al. Evidence for locus heterogeneity

in the Bethlem myopathy and linkage to 2q37// Hum. Mol. Genet.

1996. Vol.5. P. 1043—1046.

Steinmeyer K., Ortland C, Jentsch T. J. Primary structure and functional

expreddion of a developmental^ regulated skeletal muscle chloride

channel// Nature. 1991a. P. Vol. 354. P. 301—304.

Steinmeyer K., Klocke R., Ortland C. et al. Inactivation of muscle chloride

channel by transposon insertion in myotonic mice//Nature. 1991b.

Vol. 354. P. 304—308.

Sternberg D., Dananl O, Lombns A. et al. Exhaustive scanning approach

to screen all the mitochondrial tRNA genes for mutations and its

application to the investigation of 35 independent patients with

mitochondrial disorders// Hum. Mol. Genet. 1998. Vol. 7. P. 33—

42.

Su Y., Brooks D. G., Li L. et al. Myelin protein zero gene mutated in

Charcot-Marie-Tooth type IB patients// Proc. Natl. Acad. Sci. 1993.

Vol. 90. P. 10856—10860.

Suomalainen A., Majander A., Haltia M. et al. Multiple deletions of

mitochondrial DNA in several tissues of the patient with severe

retarded depression and familial progressive external

ophthalmoplegia//J. Clin. Invest. 1992. Vol .90. P. 61—66.

Suter U., Moskow J. J., Welcher A. A. A leucine-to-proline mutation in

the putative first transmembrane domain of the 22 kDa peripheral

293

myelin protein in the trember-J mouse// Proc. Natl. Acad. Sci. 1992.

Vol .89. P. 4382—4386.

Suzuki A., Yoshida M., Hayashi K., Mizuno Y, Hagiwara Y, Ozawa E.

Molecular organization at the glycoprotein-complex-binding site of

dystrophin. Three dystrophin-associated proteins bind directly to

the carboxy-terminal portion of dystrophin// Eur. J. Biochem. 1994.

Vol. 220. P. 283—292.

Suzuki A., Yoshida M., Ozawa E. Mammalian alphaland betal-syntrophin

bind to the alternative splice-prone region of the dystrophin COOH

terminus//J. Cell Biol. 1995. Vol. 128. P. 373—381.

Tahvanainen E., Beggs A. H., Wallgren-Pettersson C. Exclusion of two

candidate loci for autosomal recessive nemaline myopathy//J. Med.

Genet. 1994. Vol. 31. P. 79—80.

Takeshima H.

lino M., Takekura H. et al. Exitation-contraction uncoupling

and muscular degeneration in mice lacking functional skeletal

muscle ryanodine receptor gene// Nature. 1994. Vol. 369. P. 556—

559.

Talbot K., Ponting C. P., Theodosiou A. M. et al. Missense mutation

clustering in the survival motor neuron gene: a role for conserved

tyrosine and glycine rich region of the protein in RNA

metabolism?// Hum. Mol. Genet. 1997. Vol. 6. P. 497—500.

Talbot K., Miguel-Aliaga I., Mohaghegh P. et al. Characterization of a

gene encoding Survival Motor Neuron (SMN)-related protein, a

constituent of the spliceosome complex// Hum. Mol. Genet. 1998.

Vol.7. P. 2149—2156.

Tan P. et al. Homozygosity for a nonsense mutation in the a-tropomiosine

gene ТРМЗ in a patient with severe nemaline myopathy//

Neuromuscul. Disord. 1999. Vol. 7.427—428.

Taneja K. L, McCurrach M., Schalling M., Housman D., Singer R. H.

Foci of trinucleotide repeat transcripts in nuckei of myotonic

dystrophy cells and tissue// J. Cell Biol. 1995. Vol. 128. P. 995—

1002.

Taroni F, Verderio E., Fiorucci S. et al. Molecular characterization of

inherited carnitine palmitoyltransferase II deficiency// Proc. Natl.

Acad. Sci. 1992. Vo. 89. P. 8429—8433.

Taroni F, Verderio E., Dworzak F. et al. Identification of the common

mutation in the carnitine palmitoyltransferase II gene in familial

294

recurrent myoglobinuria patients// Nature Genet. 1993. Vol. 4.

P. 314—320.

Tawil R., Storwick D., Weiffenbach B. et al. Chromosome 4q

rearragement in monozygotic twins discordant for

facioscapulohumeral muscular dystrophy//Hum. Mutat. 1993. Vol. 2.

P. 492—494.

Tennyson C. N., Klamut H. J., Worton R. G. The human dystrophin gene

requires 16 hours to be transcribed and is ^transcriptionally

spliced// Nature Genet. 1995. Vol. 9. P. 184—190.

Tennyson C. N.. Dally G. Y, Ray P. N., Worton R. G. Expression of the

dystrophin isoform Dp71 in differentiating human fetal myogenic

cultures//Hum. Mol. Genet. 1996. Vol. 5. P. 1559—1566.

Thomas N. S. T, Williams H.

Elsas L. J. et al. Localisation of the gene

for Emery-Dreifuss muscular dystrophy to the distal long arm of the

X chromosome// J. Med. Genet. 1986. Vol. 23. P. 596—598.

Thomas N. S. Т., Sarfarazi M., Roberts K. et al. X-linked myotubular

myopathy (MTM1): evidence for linkage to Xq28 DNA markers//

(Abstract) Cytogenet. Cell Genet. 1987. Vol. 46. P. 704 only.

Thomas N.S.T., Williams H.

Cole G. et al. X-linked neonatal

centronuclear/ myotubular myopathy: evidence for linkage to Xq28

DNA marker loci//J. Med. Genet. 1990. Vol. 27. P. 284—287.

Thompson T. G.

DiDonato C. J., Simard R. L. et al. Anovel cDNAdetects

homozygous microdeletions in greater than 50% of type I spinal

muscular atrophy patients// Nature Genet. 1995. Vol. 9. P. 5662.

Timchenko L. T, Nastainczyk W., Schneider T. etal. Full-length myotonin-

protein kinase (72 kDa) displays serine kinase activity// Proc. Natl.

Acad. Sci. 1995. Vol. 92. P. 5366—5370.

Timchenko L. Т., Timchenko N. A., Caskey С. T, Roberts R. Novel

proteins with binding specificity for DNA CTG repeats and RNA CUG

repeats: implications for myotonic dystrophy// Hum. Mol. Genet.

1996. Vol. 5. P. 115—121.

Timmerman V, Raeymaekers P., De Jonghe P. et al. Assignment of the

Charcot-Marie-Tooth neuropathy type I (CMT1 a) gene to 17p11.2-

p12//Am. J. Hum. Genet. 1990. Vol. 47. P. 680—685.

Timmerman V, Nelis E., Van Hul W. et al. The peripheral myelin protein

gene PMP-22 is conteined within the Charcot-Marie-Tooth disease

type IA duplication// Nature Genet. 1992. Vol. 1. P. 171—175.

295

Timmerman V.

De Jonghe P., Simokovic S. et al. Distal hereditary motor

neuropathy type II (distal HMNII): mapping of a locus to chromosome

12q24// Hum. Mol. Genet. 1996. Vol. 5. P. 1065—1069.

Tinsley J. M.

Blake D. J., Davies К. E. Apo-dystrophin-3: a 2.2-kb

transcript from the DMD locus encoding the dystrophin glycoprotein

binding site// Hum. Molec. Genet. 1993. Vol. 2. P. 521—524.

Tinsley J. M., Davies К. E. Utrophin: a potential replacement for

dystrophin?// Neuromusc. Disord. 1993. Vol. 3 (5/6). P. 537—539.

Tinsley J. M., et al. Amelioration of the dystrophic phenotype of mdx

mice using a truncated utrophin transgene// Nature. 1996. Vol. 384.

P. 349—352.

TodaT, Kanazawa I., Nakamura J. Localization of the gene responsible

for Fukujama type congenital muscular dystrophy to chromosome

9q31 -33 by linkage analysis// (Abstract). Human Genome Mapping

Workshop 93.1993. P. 20 only.

Toda T, Yoshioka M.

Nakahori Y. et al. Genetic identity of Fukujama

type congenital muscular dystrophy and Walker-Warburg

syndrome//Ann. Neurol. 1995. Vol. 37. P. 99—101.

Toda T, Miyake M.

Kobayashi K. et al. Likage disequilibrium mapping

narrows the Fukujama type congenital muscular dystrophy (FCMD)

candidate region to less than 100 kb//Am. J. Hum. Genet. 1996.

Vol.59. P. 1313—1320.

Towbin J. A., Hejtmanicik F, Brink P. et al. X-linked cardiomyopathy

(XLCM): molecular genetic evidence of linkage to>the Duchenne

muscular dystrophy (dystrophin) gene at the Xp21 locus//

Circulation. 1993. Vol. 87. P. 1854—1865.

Towbin J. A. The role of cytoskeletal proteins in cardiomyopathies// Curr.

Opin. Cell Biol. 1998. Vol. 10. P. 131—139.

Tsujino S., Shanske S., DiMauro S. Molecular genetic heterogeneity of

myophosphorylase deficiency (McArdle's disease)// New Eng. J.

Med. 1993a. Vol. 329. P. 241—245.

Tsujino S., Shanske S., Sakoda S., Fenichel G., DiMauro S. The

molecular genetic basis of muscle phosphoglycerate mutase

(PGAM) deficiency//Am. J. Hum. Genet. 1993b. Vol. 52. P. 472—

477.

Tsujino S., Shanske S., DiMauro S. Two novel mutations (E654K, L396P)

in Caucasian patients with myophosphorylase deficiency (McArdle's

disease)// Hum. Mutat. 1995. Vol. 6. P. 276—277.

296

Udd В., Rapola J., Nokelainen R, Aricawa E., Somer H. Nonvacuolar

myopathy in a large family with both late adult onset distal myopathy

and sever proximal muscular dystrophy// J. Neurol. Sci. 1992.

Vol. 113. P. 214—221.

Upadhyayava M., Lunt P. W., Sarfarazi M. et al. A closely linked DNA

marker for facioscapulohumeral desease on chromosome 4q// J.

Med. Genet. 1991. Vol. 28. P. 665—671.

Vainzof M.

Passos-Bueno M. R., Canovas M. et al. The sarcoglycan

complex in the six autosomal recessive limb-girdle muscular

dystrophy// Hum. Mol. Genet. 1996. Vol. 5. P. 1963—1969.

Valentijn L. J., Bolhuis P. A., Zorn I. et al. The peripheral myelin gene

PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type

IA// Nature Genet. 1992a. Vol. 1. P. 166—170.

Valentijn L. J.

Baas R, Wolterman R. A. et al. Identical point muations

of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease

type IA// Nature Genet. 1992b. Vol. 2. P. 288—291.

Valenzuela D. M., Stitt T. N., DiStefano P. S. et al. Receptor tyrosine

kinase specific for the skeletal muscle lineage: expression in

embryonic muscle, at the neuromuscular junction, and after injury//

Neuron. 1995. Vol. 15. P. 573—584.

Vance J. M. Hereditary motor and sensory neuropathies//J. Med. Genet.

1991.

Vol. 28. P. 1—5.

van der Kooi A. J., et al. Genetic Localization of a newly recognized

autosomal dominant limb-girdle muscular dystrophy with cardiac

involvement (LGMD1B) to chromosome 1q11-21//Am. J. Hum.

Genet. 1997. Vol. 60. P. 891—895.

van der Steege G., Draaijers T. G., Grootscholten P. M. et al. A

provisional transcript map of the spinal muscular atrophy (SMA)

critical region// Eur. J. Hum. Genet. 1995a. Vol. 345. P. 985—986.

van der Steege G., Grootscholten P. M., van der Vlies P. et al. PCR-

based DNA test to confirm clinical diagnosis of autosomal recessive

spinal muscular atrophy//Lancet. 1995b. Vol. 345. P. 985—986.

van Deutekom J. С. Т., Bakker E., Lemmers R. J. L. F. et al. Identification

of the first gene (RRG1) from the FSHD region human chromosome

4q35// Hum. Mol. Genet. 1996a. Vol. 5. P. 581—590.

van Deutekom J. С. Т., Bakker E., Lemmers R. J. L. F. et al. Evidence

for subtelomeric exchange of 3.3 kb tandem repeat units between

chromosomes 4q35 and 10q 26: implications for genetic counselling

297

and etiology of FSHD1//Hum. Mol. Genet. 1996b. Vol. 5. P. 1997—

2003.

Velasco E., Valero C, Valero A., Moreno F., Hernandes-Chico C.

Molecular analysis of the SMN and NAIP genes in Spanish spinal

muscular atrophy families and correlation between number of copies

of CBCD541 and SMA phenotype// Hum. Mol. Genet. 1996. Vol. 5.

P. 257—263.

Vicart P., Dupret J.-M., Huzan J. et al. Human desmin gene: cDNA

sequence, regional localization and exclusion of the locus in a familial

desmin-related myopathy// Hum. Genet. 1996. Vol. 98. P. 422—

429.

Vicart P., Caron A., Guicheney P. et al. A missence mutation in the alphaB-

crystallin chaperone gene cause a desmin-related myopathy//

Nature Genet. 1998. Vol. 20. P. 92—95.

Viegas-Pequignot E., Lin L. Z., Dutrilaux B. et al. Assignment of human

desmin gene to band 2q35 by nonradioactive in situ hybridization//

Hum. Genet. 1989. Vol. 83. P. 33—36.

Vuolteenaho R., Nissenen M., Sainio K. et al. Human laminin M chain

(merosin): complete primary structure, chromosomal assignment

and expression of the M and A chain in human fetal tissues// J. Cell

Biol. 1994. Vol. 124. P. 381—394.

Wallace D. C, Lott M. Т., Brown M. D. et al. Report of the committe on

human mitochondrial DNA// In: Cuticchia A. J. (ed.). Human Gene

Mapping 1995: A Compendium.-1995.John Hopkins Univ. Press.

Baltimore. P. 910—954.

Wallgren-Petersson C, Arjomaa P., Holmberg C. Alfa-actinin and myosin

light chains in congenetal nemaline myopathy// Pediat. Neurol. 1990.

Vol.6. P. 171—174.

Wang С. H., Xu J., Carter T. A. et al. Characterization of survival motor

neuron (SMNt) gene in asymptomatic carriers of spinal muscular

atrophy// Hum. Mol. Genet. 1996. Vol. 5. P. 359—365.

Wang J., Rojas С. V., Zhou J. et al. Sequence and genomic structure of

the human adult skeletal muscle sodium channel alpha-subunit gene

on 17q//Biochem. Biophys Res. Commun. 1992. Vol. 182. P. 794—

801.

Wang J., Pansky A., Venuti J. M. et al. A sea urchin gene encoding

dystrophin-related proteins//Hum. Mol. Genet. 1998. Vol. 7. P. 581—

588.

298

Wang К., Knipfer M., Huang Q.-Q. et al. Human skeletal muscle nebulin

sequence encodes a blueprint for thin filament architekture:

sequence motifs and affinity profiles of tandem repeats and terminal

SH3// J. Biol. Chem. 1996. Vol. 271. P. 4304—4314.

Wang W., Wu W., Desai Т., Ward D. C, Kaufman S. J. Localization of

the alpha 7 integrin gene (ITGA7) on human chromosome 12q13:

Clustering of integrin and Hox genes iimplies parallel evolution of

these gene families// Genomics. 1995. Vol. 26. P. 568—570.

Wang Y. H., Griffith J. Expanded CTG triplet blocks from the myotonic

dystrophy gene create the srongest known natural nukleosome

positioning elements//Genomics. 1995a. Vol. 25. P. 570—573.

Wang Y. H., Pegoraro E., Menegazzo E. Myotonic dystrophy: evidence

for a possible dominant-negative RNA mutation// Hum. Mol. Genet.

1995b. Vol. 4. P. 599—606.

Wang J., Pansky A., Venuti J. M. et al. A sea urchin gene encoding

dystrophin-related proteins//Hum. Mol. Genet. 1998. Vol. 7. P. 581—

588.

Weiffenbach В., Dubois J., Storwick D. et al. Mapping the

facioscapulohumeral muscular dystrophy gene is complicated by

chromosome 4q35 recombination events// Nature Genet. 1993.

Vol. 4. P. 165—169.

Wells D. J., Wells К. E., Walsh R S. et al. Human dystrophin expression

corrects the myopathic phenotype in transgenic mdx mice// Hum.

Mol. Genet. 1992. Vol. 1. P. 35—40.

Wiedau-Pazos M., Goto J. J., Rabizadeh S. et al. Altered reactivity of

superoxide dismutase in familial amyotrophic lateral sclerosis//

Science. 1996. Vol. 271. P. 515—518.

Wijmenga C, Frants R. R.

Brouer O. F. et al. Location of

facioscapulohumeral muscular dystrophy gene on chromosome All

Lancet. 1990. Vol. 336. P. 651—653.

Wijmenga C, Hewitt J. E., Sandkuijl L A. et al. Chromosome 4q DNA

rearrangements assoiated with facioscapulohumeral muscular

dystrophy// Nature Genet. 1992. Vol. 2. P. 26—30.

Wilhelmsen К. C, Blake D. M.

Lynch T. et al. Chromosome 12-linked

autosomal dominant scapuloperoneal muscular dystrophy// Ann.

Neurol. 1996. Vol. 39. P. 507—520.

299

Willard H.F. et al. Report of the fifth international workshop on human X

chromosome mapping// Cytogenet. Cell Genet. 1994. Vol. 67.

P. 295—358.

Williamson R. A., Henry M. D., Daniels K. J. et al. Dysroglycan is essential

for early embryonic development: disruption of Reichert's membrane

in Dag1-null mice// Hum. Mol. Genet. 1997. Vol. 6. P. 831—841.

Wirth В., Hahnen E., Morgan K. et al. Allelic association and deletions in

autosomal recessive proximal spinal muscular atrophy: association

of marker genotype with disease severity and candidate cDNAs//

Hum. Mol. Genet. 1995. Vol. 4. P. 1273—1284.

Wise C. A., Garcia C. A., Davis S. N. et al. Molecular analysis of unrelated

Charcot-Marie-Tooth (CMT) disease patients suggest a high

frequenccy of the CMT1A duplication//Am. J. Hum. Genet. 1993.

Vol. 53. P. 853—863.

Wong P. C, Pardo C. A., Borchelt D. R. et al. An adverse property of a

familial ALS-linked SOD1 mutation causes motor neuron disease

characterized by vacuolar degeneration of mitochondria// Neuron.

1995. Vol. 14. P. 1105—1116.

Xia J.-h., Liu C.-u., Tang B.-S. et al. Mutations in the gene encoding gap

junction protein beta-3 associated with autosomal dominant hearing

impairment// Nature Genet. 1998. Vol. 20. P. 370—373.

Xu H., Wu X. R., Wewer U. M., Engwall E. Murine muscular dystrophy

caused by a mutation in the laminin beta2 (Lama2) gene// Nature

Genet. 1994. Vol. 8. P. 297—302.

Yoon K. L., Aprille J. R., Ernst S. G. Mitochondrial tRNA-thr mutation in

fatal infantile respiratory enzyme deficiency// Biochem. Biophys.

Commun. 1991. Vol. 176. P. 1112—1115.

Yoshida K., Ikeda S.I., Nakamura A. et al. Molecular analysis of the

Duchenne muscular dystrophy gene in patients with Becker

muscular dystrophy presenting with dilated cardiomyopathy// Muscle

Nerve. 1993. Vol. 16. P. 1161—1166.

Yano-Yanagisawa H., Li Y, Wang H.

Kohwi Y. Single stranded DNA

binding proteins isolated from mouse brain recognize specific

trinucleotide repeat sequences in vitro// Nucleic Acids Res. 1995.

Vol. 23. P. 2654—2660.

Yates J. R. W.

(

Affara N. A., Jamieson D. M. et al. Emery-Dreifuss

muscular dystrophy: localisation to Xq27.3.qter confirmed by linkage

to the factor VIII gene// J. Med. Genet. 1986. Vol. 23. P. 587—590.

300