-
2
-
-
85008070304
-
Laminin in animal models for muscular dystrophy : Defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice
-
Series B
-
ARAHATA K., HAYASHI Y.K., KOGA R., GOTO K., LEE J H., MIYAGOE Y., ISHII H., TSUKAHARA T., TAKEDA S , WOO M., NONAKA I , MATSUZAKI T., SUGITA H. (1993). Laminin in animal models for muscular dystrophy : defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Japan Acad, 69 : Series B : 259-264.
-
(1993)
Proc Japan Acad
, vol.69
, pp. 259-264
-
-
Arahata, K.1
Hayashi, Y.K.2
Koga, R.3
Goto, K.4
Lee, J.H.5
Miyagoe, Y.6
Ishii, H.7
Tsukahara, T.8
Takeda, S.9
Woo, M.10
Nonaka, I.11
Matsuzaki, T.12
Sugita, H.13
-
3
-
-
0025870790
-
Immunocytochemical analysis of dystrophin in congenital muscular dystrophy
-
ARIKAWA E., ISHIHARA T., NONAKA I., SUGITA H., ARAHATA K. (1991). Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. J Neurol Sci. 105 : 79-87.
-
(1991)
J Neurol Sci.
, vol.105
, pp. 79-87
-
-
Arikawa, E.1
Ishihara, T.2
Nonaka, I.3
Sugita, H.4
Arahata, K.5
-
4
-
-
0000122091
-
The Congenital Muscular Dystrophies
-
A.G. Engel & C. Franzini-Armstrong eds, Chapter 48, Mc Graw-Hill Inc., New York
-
BANKER B.Q. (1994). The Congenital Muscular Dystrophies. In. « Myology », 2nd edition, A.G. Engel & C. Franzini-Armstrong eds, Chapter 48, 1275-1289. Mc Graw-Hill Inc., New York.
-
(1994)
« Myology », 2nd Edition
, pp. 1275-1289
-
-
Banker, B.Q.1
-
5
-
-
0343200361
-
Case of myositis fibrosa with pathological examination
-
BATTEN F.E. (1903). Case of myositis fibrosa with pathological examination. Trans Clin Soc Lond, 37 : 12.
-
(1903)
Trans Clin Soc Lond
, vol.37
, pp. 12
-
-
Batten, F.E.1
-
6
-
-
0018684325
-
Myoencephalopathy cerebral hyomyelination revealed by CT Scanner of the head in a muscle disease
-
BERNIER J.P , BROOKE M., NAIDICH R., CAROLL J. (1979). Myoencephalopathy cerebral hyomyelination revealed by CT Scanner of the head in a muscle disease. Trans Am Neurol Ass, 104 : 244-246.
-
(1979)
Trans Am Neurol Ass
, vol.104
, pp. 244-246
-
-
Bernier, J.P.1
Brooke, M.2
Naidich, R.3
Caroll, J.4
-
7
-
-
0016688925
-
Neural abnormalities in the dystrophic mouse
-
BRADLEY W.G., JENKISON M. (1975). Neural abnormalities in the dystrophic mouse. J Neurol Sci, 25 : 249-255.
-
(1975)
J Neurol Sci
, vol.25
, pp. 249-255
-
-
Bradley, W.G.1
Jenkison, M.2
-
8
-
-
0016804747
-
Congenital muscular dystrophy : A clinico-pathological and follow-up study of 15 patients
-
DONNER M., RAPOLA J., SOMER H. (1975). Congenital muscular dystrophy : a clinico-pathological and follow-up study of 15 patients. NeuroPädiatrie, 6 . 239-258.
-
(1975)
NeuroPädiatrie
, vol.6
, pp. 239-258
-
-
Donner, M.1
Rapola, J.2
Somer, H.3
-
9
-
-
0018875442
-
A role for collagen in the pathogenesis of muscular dystrophy ?
-
DUANCE V.C., STEPHENS H.R., DUNN M., BAILEY A J , DUBOWITZ V. (1980). A role for collagen in the pathogenesis of muscular dystrophy ? Nature, 284 . 470-472.
-
(1980)
Nature
, vol.284
, pp. 470-472
-
-
Duance, V.C.1
Stephens, H.R.2
Dunn, M.3
Bailey, A.J.4
Dubowitz, V.5
-
10
-
-
0015597292
-
Rigid spine syndrome : A muscle syndrome in search of a name
-
DUBOWITZ V. (1973). Rigid spine syndrome : a muscle syndrome in search of a name. Proc Roy Soc Med, 66 : 219.
-
(1973)
Proc Roy Soc Med
, vol.66
, pp. 219
-
-
Dubowitz, V.1
-
11
-
-
0022502986
-
Congenital muscular dystrophy and cerebral CT Scan anomalies. Results of a collaborative study of the « Societé de Neurologie Infantile »
-
ECHENNE B., ARTHUIS M., BILLARD C., CAMPOS-CASTELLO J., CASTEL Y , DULAC O., FONTAN D , GAUTHIER A., KULAKOWSKI S., DE MEURON G., MOORE J.R., NIETO-BARRERA M., PAGES M., PARAIN D., PAVONE L., PONSOT G. (1986). Congenital muscular dystrophy and cerebral CT Scan anomalies. Results of a collaborative study of the « Societé de Neurologie Infantile ». J Neurol Sci, 75 . 7-22.
-
(1986)
J Neurol Sci
, vol.75
, pp. 7-22
-
-
Echenne, B.1
Arthuis, M.2
Billard, C.3
Campos-Castello, J.4
Castel, Y.5
Dulac, O.6
Fontan, D.7
Gauthier, A.8
Kulakowski, S.9
De Meuron, G.10
Moore, J.R.11
Nieto-Barrera, M.12
Pages, M.13
Parain, D.14
Pavone, L.15
Ponsot, G.16
-
12
-
-
0020678436
-
Involvement of the central nervous system in congenital muscular dystrophies
-
EGGER J., KENDALL B.E., ERDOHAZI M., LAKE B.D., WILSON J., BRETT E.M. (1983). Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol, 25 . 32-42.
-
(1983)
Dev Med Child Neurol
, vol.25
, pp. 32-42
-
-
Egger, J.1
Kendall, B.E.2
Erdohazi, M.3
Lake, B.D.4
Wilson, J.5
Brett, E.M.6
-
13
-
-
0015536987
-
Caractéristiques cytochimiques et ultrastructurales des différents types de fibres musculaires squelettiques extra-fusales (chez l'homme et quelques mammifères)
-
FARDEAU M. (1973). Caractéristiques cytochimiques et ultrastructurales des différents types de fibres musculaires squelettiques extra-fusales (chez l'homme et quelques mammifères). Ann Anat Path, 18 : 7-34
-
(1973)
Ann Anat Path
, vol.18
, pp. 7-34
-
-
Fardeau, M.1
-
14
-
-
0001960683
-
Congenital myopathies
-
F. Mastaglia & Lord Walton of Detchant (eds), 2nd edition, Churchill-Livingstone, Edinburgh
-
FARDEAU M. (1992). Congenital myopathies. In : Skeletal Muscle Pathology : F. Mastaglia & Lord Walton of Detchant (eds), 2nd edition, pp 237-281. Churchill-Livingstone, Edinburgh.
-
(1992)
Skeletal Muscle Pathology
, pp. 237-281
-
-
Fardeau, M.1
-
15
-
-
0020071941
-
Congenital muscular dystrophy (CMD) : A collagen-formative disease ?
-
FIDZIANSKA A., GOEBEL H.H., LENARD H.G., HECKMANN C. (1982) Congenital muscular dystrophy (CMD) : A collagen-formative disease ? J Neurol Sci, 55 79.
-
(1982)
J Neurol Sci
, vol.55
, pp. 79
-
-
Fidzianska, A.1
Goebel, H.H.2
Lenard, H.G.3
Heckmann, C.4
-
16
-
-
0002618558
-
A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases
-
FUKUYAMA U., KAWAMURA M., HARUNA H. (1960). A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases. Paediatr Univ Tokyo, 4 : 5-8.
-
(1960)
Paediatr Univ Tokyo
, vol.4
, pp. 5-8
-
-
Fukuyama, U.1
Kawamura, M.2
Haruna, H.3
-
17
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type : Clinical, genetic and pathological considerations
-
FUKUYAMA Y., OSAWA M., SUZUKI H. (1981). Congenital progressive muscular dystrophy of the Fukuyama type : clinical, genetic and pathological considerations Brain & Dev, 3 : 1-29.
-
(1981)
Brain & Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
18
-
-
0021997499
-
Fibronectin, laminin, type I, III & IV collagen in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies : An immunocytochemical study
-
HANTAI D., LABAT-ROBERT J., GRIMAUD J.A., FARDEAU M (1985) Fibronectin, laminin, type I, III & IV collagen in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies : an immunocytochemical study. Connect Tissue Res, 13 273-281.
-
(1985)
Connect Tissue Res
, vol.13
, pp. 273-281
-
-
Hantai, D.1
Labat-Robert, J.2
Grimaud, J.A.3
Fardeau, M.4
-
19
-
-
0011823447
-
Sur la myatonie congénitale (maladie d'Oppenheim)
-
HAUSHALTER P. (1920). Sur la myatonie congénitale (maladie d'Oppenheim) Arch Med Enf, 23 : 133-144
-
(1920)
Arch Med Enf
, vol.23
, pp. 133-144
-
-
Haushalter, P.1
-
20
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
HAYASHI Y.K., ENGVALL E., ARIKAWA-HIRASAWA E., GOTO K., HOGA R., NONAKA I., SUGITA H., ARAHATA K. (1993) Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci, 119 . 53-64
-
(1993)
J Neurol Sci
, vol.119
, pp. 53-64
-
-
Hayashi, Y.K.1
Engvall, E.2
Arikawa-Hirasawa, E.3
Goto, K.4
Hoga, R.5
Nonaka, I.6
Sugita, H.7
Arahata, K.8
-
21
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
HILLAIRE D , LECLERC A., FAURE S , TOPALOGLU H., CHIANNILKULCHAI N., GUICHENEY P , GRINDS L , LEGOS P., PHILPOT J , EVANGELISTA T , ROUTON M.C., MAYER M., PELLISSIER J.F., ESTOURNET B., BAROIS A., HENTATI F., FEINGOLD N., BECKMANN J.S., DUBOWITZ V., TOME F.M.S., FARDEAU M. (1994) Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet, 3 : 1657-1661.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Faure, S.3
Topaloglu, H.4
Chiannilkulchai, N.5
Guicheney, P.6
Grinds, L.7
Legos, P.8
Philpot, J.9
Evangelista, T.10
Routon, M.C.11
Mayer, M.12
Pellissier, J.F.13
Estournet, B.14
Barois, A.15
Hentati, F.16
Feingold, N.17
Beckmann, J.S.18
Dubowitz, V.19
Tome, F.M.S.20
Fardeau, M.21
more..
-
22
-
-
0000827668
-
A case of congenital defect of the muscular system (Dystrophia muscularis congenita) and its association with congenital talipes equino-varus
-
HOWARD R. (1908). A case of congenital defect of the muscular system (Dystrophia muscularis congenita) and its association with congenital talipes equino-varus. Proc Roy Soc. Med 1 : 157-166.
-
(1908)
Proc Roy Soc. Med
, vol.1
, pp. 157-166
-
-
Howard, R.1
-
23
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to extracellular matrix
-
IBRAGHIMOV-BESKROVNAYA O , ERVASTI J.M , LEVEILLE C J., SLAUGHIER C.A., SERNETT S.W., CAMPBELL K.P. (1992). Primary structure of dystrophin-associated glycoproteins linking dystrophin to extracellular matrix. Nature. 355 : 696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughier, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
24
-
-
0018671833
-
Congenital muscular dystrophy : Case reports and reappraisal
-
LAZARO R.P., FENICHEL G.M., KILROY A.W (1979). Congenital muscular dystrophy : case reports and reappraisal. Muscle Nerve, 2 349-355.
-
(1979)
Muscle Nerve
, vol.2
, pp. 349-355
-
-
Lazaro, R.P.1
Fenichel, G.M.2
Kilroy, A.W.3
-
25
-
-
0023970247
-
Merosin, a protein specific for basement membrane of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development
-
LEIVO I., ENGVALL E. (1988). Merosin, a protein specific for basement membrane of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development, Proc Nat Acad Sci USA, 85 1544-1548.
-
(1988)
Proc Nat Acad Sci USA
, vol.85
, pp. 1544-1548
-
-
Leivo, I.1
Engvall, E.2
-
26
-
-
85005370238
-
Myopathie chez une fille de 9 ans révélée a la naissance par une hypotonie musculaire generalisée
-
LELONG M., CANLORBE P., TAN-VINH L., DALLOZ J.C., CORBIN J.L., VASSAL J. (1962). Myopathie chez une fille de 9 ans révélée a la naissance par une hypotonie musculaire generalisée. Arch Fr Pediatr, 19 584-596.
-
(1962)
Arch Fr Pediatr
, vol.19
, pp. 584-596
-
-
Lelong, M.1
Canlorbe, P.2
Tan-Vinh, L.3
Dalloz, J.C.4
Corbin, J.L.5
Vassal, J.6
-
27
-
-
0011857703
-
Un cas de myatonie congénitale avec autopsie
-
LEREBOULLET P., BAUDOUIN A. (1909). Un cas de myatonie congénitale avec autopsie. Bull Soc Med Hôp Paris, 27 : 1162-1166.
-
(1909)
Bull Soc Med Hôp Paris
, vol.27
, pp. 1162-1166
-
-
Lereboullet, P.1
Baudouin, A.2
-
28
-
-
0024375458
-
Congenital muscular dystrophy
-
LEYTEN Q.H., GABREELS F.J.M., REINER W.O., TER LAAK H.J., SENGERS R.C.A., MULLAART R.A. (1989). Congenital muscular dystrophy. J Pediat, 115 : 214-221.
-
(1989)
J Pediat
, vol.115
, pp. 214-221
-
-
Leyten, Q.H.1
Gabreels, F.J.M.2
Reiner, W.O.3
Ter Laak, H.J.4
Sengers, R.C.A.5
Mullaart, R.A.6
-
29
-
-
0027428923
-
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases
-
LICHTIG C., LUDATSCHER R.M., MANDEL H., GERSHONI-BARUCH R. (1993). Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. Am J Clin Path, 100 : 493-496.
-
(1993)
Am J Clin Path
, vol.100
, pp. 493-496
-
-
Lichtig, C.1
Ludatscher, R.M.2
Mandel, H.3
Gershoni-Baruch, R.4
-
30
-
-
0020054172
-
Congenital muscular dystrophy : A clinico pathologic report of 24 cases
-
MCMENAMIN J , BECKER L.E., MURPHY E.G. (1982). Congenital muscular dystrophy : a clinico pathologic report of 24 cases. J Pediat, 100 : 692-697.
-
(1982)
J Pediat
, vol.100
, pp. 692-697
-
-
Mcmenamin, J.1
Becker, L.E.2
Murphy, E.G.3
-
31
-
-
0026757138
-
Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
MATSUMURA K., TOMÉ F.M.S., COLLIN H., AZIBI K., CHAOUCH M., KAPLAN J.C., FARDEAU M., CAMPBELL K.P. (1992). Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature, 359 . 320-322.
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Collin, H.3
Azibi, K.4
Chaouch, M.5
Kaplan, J.C.6
Fardeau, M.7
Campbell, K.P.8
-
32
-
-
0027176661
-
Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking cysteinerich C-terminal domains of dystrophin
-
MATSUMURA K., TOMÉ F M.S., IONACESCU V.V., ERVASTI J.M., ANDERSON R.D., ROMERO N.B., SIMON D., RECAN D., KAPLAN J.C., FARDEAU M., CAMPBELL K.P. (1993). Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking cysteinerich C-terminal domains of dystrophin. J Clin Invest, 92 : 866-871.
-
(1993)
J Clin Invest
, vol.92
, pp. 866-871
-
-
Matsumura, K.1
Tomé, F.M.S.2
Ionacescu, V.V.3
Ervasti, J.M.4
Anderson, R.D.5
Romero, N.B.6
Simon, D.7
Recan, D.8
Kaplan, J.C.9
Fardeau, M.10
Campbell, K.P.11
-
33
-
-
0001874191
-
Congenital muscular dystrophy
-
P.J. Winken & G.W. Bruyn eds, North-Holland Publ. Co , Amsterdam
-
NONAKA I., CHOU S. (1979). Congenital muscular dystrophy. In : « Handbook of clinical neurology. P.J. Winken & G.W. Bruyn eds, vol. 41, 27-50, North-Holland Publ. Co , Amsterdam.
-
(1979)
Handbook of Clinical Neurology
, vol.41
, pp. 27-50
-
-
Nonaka, I.1
Chou, S.2
-
34
-
-
0018147452
-
A genetical and epidemiological study on congenital progressive muscular dystrophy (Fukuyama type)
-
Tokyo
-
OSAWA M. (1978). A genetical and epidemiological study on congenital progressive muscular dystrophy (Fukuyama type). J Tokyo Women's Med Coll, (Tokyo), 48 : 204-41.
-
(1978)
J Tokyo Women's Med Coll
, vol.48
, pp. 204-241
-
-
Osawa, M.1
-
35
-
-
0025744804
-
Fukuyama type Congenital Progressive Muscular Dystrophy
-
OSAWA M., ARAI Y., IKENAKA H., MURASUGI H., SUGUHARA N., SUMIDA S., OKADA N., SHISHIKURA K., SUZUKI H., HIRAYAMA Y., HIRASAWA K., FUKUYAMA Y., TSUTSUMI A., ITO K , UCHIDA Y (1991) Fukuyama type Congenital Progressive Muscular Dystrophy. Acta Paediatr Jpn, 35 : 261-269.
-
(1991)
Acta Paediatr Jpn
, vol.35
, pp. 261-269
-
-
Osawa, M.1
Arai, Y.2
Ikenaka, H.3
Murasugi, H.4
Suguhara, N.5
Sumida, S.6
Okada, N.7
Shishikura, K.8
Suzuki, H.9
Hirayama, Y.10
Hirasawa, K.11
Fukuyama, Y.12
Tsutsumi, A.13
Ito, K.14
Uchida, Y.15
-
36
-
-
0022970959
-
Hydrocephalus lissencephaly. ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant ?
-
PAVONE L., GULLOTTA F., GRASSO S., VANUCCHI C (1986). Hydrocephalus lissencephaly. ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant ? Neuropediatrics, 17 . 206-211.
-
(1986)
Neuropediatrics
, vol.17
, pp. 206-211
-
-
Pavone, L.1
Gullotta, F.2
Grasso, S.3
Vanucchi, C.4
-
37
-
-
0029061267
-
Clinical phenotype in congenital muscular dystrophy . correlation with expression of merosin in skeletal muscle
-
PHILPOT J., SEWRY C , PENNOCK J., DUBOWITZ V. (1995). Clinical phenotype in congenital muscular dystrophy . correlation with expression of merosin in skeletal muscle. Neuromusc Disord, 5 . 301-305.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
38
-
-
0028012859
-
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
-
ROMERO N.B., TOMÉ F.M S., LETURCQ F., EL KERCH F., AZIBI K., BACHNER L., ANDERSON R.D., ROBERDS S.L., CAMPBELL K.P , FARDEAU M., KAPLAN J.C. (1994). Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. CR Acad Sci Paris, Sciences de la Vie/Life. Sciences, 317 70-76.
-
(1994)
CR Acad Sci Paris, Sciences de la Vie/Life. Sciences
, vol.317
, pp. 70-76
-
-
Romero, N.B.1
Tomé, F.M.S.2
Leturcq, F.3
El Kerch, F.4
Azibi, K.5
Bachner, L.6
Anderson, R.D.7
Roberds, S.L.8
Campbell, K.P.9
Fardeau, M.10
Kaplan, J.C.11
-
39
-
-
15844398139
-
Muscle, eye and brain disease : A new syndrome
-
SANTAVUORI P., LEISTI J., KRVUS S. (1978). Muscle, eye and brain disease : a new syndrome. Doc Ophtalm Proc, 17 : 393-396.
-
(1978)
Doc Ophtalm Proc
, vol.17
, pp. 393-396
-
-
Santavuori, P.1
Leisti, J.2
Krvus, S.3
-
40
-
-
0019220139
-
Dystrophie musculaire congenitale
-
Paris
-
SERRATRICE G., CROS D., PELLISSIER J.F., GASTAUT J.L , POUGET J. (1980). Dystrophie musculaire congenitale. Rev Neurol (Paris), 136 : 445-472.
-
(1980)
Rev Neurol
, vol.136
, pp. 445-472
-
-
Serratrice, G.1
Cros, D.2
Pellissier, J.F.3
Gastaut, J.L.4
Pouget, J.5
-
41
-
-
0028318185
-
Deficiency of merosin in dystrophic dy mice and genetic linkage of the laminin M chain gene to dy locus
-
SUNADA Y., BERNIER S.M., KOZAK C.A., YAMADA Y., CAMPBELL K.P. (1994). Deficiency of merosin in dystrophic dy mice and genetic linkage of the laminin M chain gene to dy locus. J Biol Chem, 269 : 13729-13732.
-
(1994)
J Biol Chem
, vol.269
, pp. 13729-13732
-
-
Sunada, Y.1
Bernier, S.M.2
Kozak, C.A.3
Yamada, Y.4
Campbell, K.P.5
-
42
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
TODA T., SEGAWA M., NOMURA Y., NONAKA I., MASUDA K., ISHIHARA T , SUZUKI M., TOMITA L., ORIGUCHI Y., OHNO K., MISUGI M., SASAKI Y., TAKADA R., KAWAI M., OTANI K., MURAKAMI T., SAITO K., FUKUYAMA Y., SHIMIZU T., KANAZAWA I., NAKAMURA Y. (1993). Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet, 5 : 283-286.
-
(1993)
Nature Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
Nonaka, I.4
Masuda, K.5
Ishihara, T.6
Suzuki, M.7
Tomita, L.8
Origuchi, Y.9
Ohno, K.10
Misugi, M.11
Sasaki, Y.12
Takada, R.13
Kawai, M.14
Otani, K.15
Murakami, T.16
Saito, K.17
Fukuyama, Y.18
Shimizu, T.19
Kanazawa, I.20
Nakamura, Y.21
more..
-
43
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Paris
-
TOMÉ F.M.S., EVANGELISTA T., LECLERC A., SUNADA Y., MANOLE E., ESTOURNET B., BAROIS A., CAMPBELL K.P., FARDEAU M. (1994). Congenital muscular dystrophy with merosin deficiency. CR Acad Sci, Paris, 317 : 351-357.
-
(1994)
CR Acad Sci
, vol.317
, pp. 351-357
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estournet, B.6
Barois, A.7
Campbell, K.P.8
Fardeau, M.9
-
44
-
-
0026024319
-
Occidental type cerebomuscular dystrophy. A report of eleven cases
-
TOPALOGLU H., YALAZ K., RENDA Y., CAGLAR M., GÖGUS S., KALE G., GUCUYENER K., NURLU G. (1991). Occidental type cerebomuscular dystrophy. A report of eleven cases. J Neurol Neurosurg Psychiat, 54 . 226-229.
-
(1991)
J Neurol Neurosurg Psychiat
, vol.54
, pp. 226-229
-
-
Topaloglu, H.1
Yalaz, K.2
Renda, Y.3
Caglar, M.4
Gögus, S.5
Kale, G.6
Gucuyener, K.7
Nurlu, G.8
-
45
-
-
15844426364
-
Merosin and clinical characteristics of congenital muscular dystrophy in an unselected group of Turkish patients
-
TOPALOGLU H., EVANGELISTA T , GÖGUS S., YALAK K., TOMÉ F.M.S. (1995). Merosin and clinical characteristics of congenital muscular dystrophy in an unselected group of Turkish patients. Brain Dev.
-
(1995)
Brain Dev.
-
-
Topaloglu, H.1
Evangelista, T.2
Gögus, S.3
Yalak, K.4
Tomé, F.M.S.5
-
46
-
-
0025753765
-
Congenital muscular dystrophy : Brain alterations in an unselected series of Western patients
-
TREVISAN C., CAROLLO C.P., SEGALLA P., ANGELINI C , DRIGO P., GIORDANO R. (1991). Congenital muscular dystrophy : brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiat, 54 : 330-334.
-
(1991)
J Neurol Neurosurg Psychiat
, vol.54
, pp. 330-334
-
-
Trevisan, C.1
Carollo, C.P.2
Segalla, P.3
Angelini, C.4
Drigo, P.5
Giordano, R.6
-
47
-
-
0345395072
-
The relationship between amyotonia congenita and congenital myopathy
-
TURNER J.W.A. (1940). The relationship between amyotonia congenita and congenital myopathy Brain, 63 : 163-177
-
(1940)
Brain
, vol.63
, pp. 163-177
-
-
Turner, J.W.A.1
-
48
-
-
2542515047
-
Congenital myopathy: A fifty year follow-up
-
TURNER J.W.A., LEES F (1962). Congenital myopathy: a fifty year follow-up. Brain, 85 733-740.
-
(1962)
Brain
, vol.85
, pp. 733-740
-
-
Turner, J.W.A.1
Lees, F.2
-
49
-
-
0000747486
-
Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiteres Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems
-
ULLRICH O. (1930). Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiteres Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. Z Ges Neurol Psychiat, 126 . 171-201.
-
(1930)
Z Ges Neurol Psychiat
, vol.126
, pp. 171-201
-
-
Ullrich, O.1
-
50
-
-
0028066764
-
Human laminin M chain (merosin). complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
-
VUOLTEENAHO R., NISSINEN M , SAINIO K., BYERS M., EDDY R , HIRVONEN H., SHOWS T.B., SARIOLA H., ENGVALL E., TRYGVASON K. (1994). 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, 124 : 381-394.
-
(1994)
J Cell Biol
, vol.124
, pp. 381-394
-
-
Vuolteenaho, R.1
Nissinen, M.2
Sainio, K.3
Byers, M.4
Eddy, R.5
Hirvonen, H.6
Shows, T.B.7
Sariola, H.8
Engvall, E.9
Trygvason, K.10
-
52
-
-
0014147816
-
Benign congenital muscular dystrophy. A special form of congenital hypotonia
-
ZELLWEGER H., AFIFI A , MCCORMICK W.F., MERGNER W. (1967). Benign congenital muscular dystrophy. A special form of congenital hypotonia. Clin Pediat., 6 : 655-663.
-
(1967)
Clin Pediat.
, vol.6
, pp. 655-663
-
-
Zellweger, H.1
Afifi, A.2
Mccormick, W.F.3
Mergner, W.4
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