-
1
-
-
0018901265
-
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature
-
HARDING, A.E. & P.K. THOMAS. 1980. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J. Neurol. Sci. 45: 337-348.
-
(1980)
J. Neurol. Sci.
, vol.45
, pp. 337-348
-
-
Harding, A.E.1
Thomas, P.K.2
-
2
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low & J.F. Poduslo, Eds. W.B. Saunders Company. Philadelphia
-
DYCK, P.J., P. CHANCE, R. LEBO & J.A. CARNEY. 1993. Hereditary motor and sensory neuropathies. In Peripheral Neuropathy. P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low & J.F. Poduslo, Eds.: 1094-1136. W.B. Saunders Company. Philadelphia.
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
3
-
-
0001140122
-
Inherited neuronal atrophy and degeneration predominantly of lower motor neurons
-
P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low & J.F. Poduslo, Eds. W.B. Saunders Company. Philadelphia
-
HARDING, A.E. 1993. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In Peripheral Neuropathy. P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low & J.F. Poduslo, Eds.: 1051-1064. W.B. Saunders Company. Philadelphia.
-
(1993)
Peripheral Neuropathy
, pp. 1051-1064
-
-
Harding, A.E.1
-
4
-
-
0018306348
-
Distal spinal muscular atrophy. A clinical and genetic study in 8 kindreds
-
PEARN, J. & P. HUDGSON. 1979. Distal spinal muscular atrophy. A clinical and genetic study in 8 kindreds. J. Neurol. Sci. 43: 183-191.
-
(1979)
J. Neurol. Sci.
, vol.43
, pp. 183-191
-
-
Pearn, J.1
Hudgson, P.2
-
5
-
-
0015170146
-
Review: The nosology of the spinal muscular atrophies
-
EMERY, A.E.H. 1971. Review: the nosology of the spinal muscular atrophies. J. Med. Genet. 8: 481-495.
-
(1971)
J. Med. Genet.
, vol.8
, pp. 481-495
-
-
Emery, A.E.H.1
-
6
-
-
0032145786
-
-
2nd workshop of the European CMT consortium: 53rd ENMC international workshop on classification and diagnostic guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (distal HMN-spinal CMT). September 26-28, 1997. Naarden, The Netherlands
-
DE JONGHE, P., V. TIMMERMAN, C. VAN BROECKHOVEN & WORKSHOP PARTICIPANTS. 1998. 2nd workshop of the European CMT consortium: 53rd ENMC international workshop on classification and diagnostic guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (distal HMN-spinal CMT). September 26-28, 1997. Naarden, The Netherlands. Neuromusc. Disord. 8: 426-431.
-
(1998)
Neuromusc. Disord.
, vol.8
, pp. 426-431
-
-
De Jonghe, P.1
Timmerman, V.2
Van Broeckhoven, C.3
-
7
-
-
0029145426
-
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
-
CHRISTODOULOU, K., T. KYRIAKIDES, A.H. HRISTOVA, D.M. GEORGIOU, L. KALAYDJIEVA, B. YSHPEKOVA, T. IVANOVA, J.L. WEBER & L.T. MIDDLETON. 1995. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum. Mol. Genet. 4: 1629-1632.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1629-1632
-
-
Christodoulou, K.1
Kyriakides, T.2
Hristova, A.H.3
Georgiou, D.M.4
Kalaydjieva, L.5
Yshpekova, B.6
Ivanova, T.7
Weber, J.L.8
Middleton, L.T.9
-
8
-
-
0026521028
-
Linkage of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree
-
TIMMERMAN, V., P. RAEYMAEKERS, E. NELIS, P. DE JONGHE, L. MUYLLE, C. CEUTERICK, J.-J. MARTIN & C. VAN BROECKHOVEN. 1992. Linkage of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J. Neurol. Sci. 109: 41-48.
-
(1992)
J. Neurol. Sci.
, vol.109
, pp. 41-48
-
-
Timmerman, V.1
Raeymaekers, P.2
Nelis, E.3
De Jonghe, P.4
Muylle, L.5
Ceuterick, C.6
Martin, J.-J.7
Van Broeckhoven, C.8
-
9
-
-
0027317609
-
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
-
BEN OTHMANE, K., L.T. MIDDLETON, L.J. LOPREST, K.M. WILKINSON, F. LENNON, M.P. ROZEAR, J.M. STAJICH, P.C. GASKELL, A.D. ROSED, M.A. PERICAK-VANCE & J.M. VANCE. 1993. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17: 370-375.
-
(1993)
Genomics
, vol.17
, pp. 370-375
-
-
Ben Othmane, K.1
Middleton, L.T.2
Loprest, L.J.3
Wilkinson, K.M.4
Lennon, F.5
Rozear, M.P.6
Stajich, J.M.7
Gaskell, P.C.8
Rosed, A.D.9
Pericak-Vance, M.A.10
Vance, J.M.11
-
10
-
-
0029150128
-
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
KWON, J.M., J.L. ELLIOTT, W.C. YEE, J. IVANOVICH, N.J. SCAVARDA, P.J. MOOLSINTONG & P.J. GOODFELLOW. 1995. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 853-858
-
-
Kwon, J.M.1
Elliott, J.L.2
Yee, W.C.3
Ivanovich, J.4
Scavarda, N.J.5
Moolsintong, P.J.6
Goodfellow, P.J.7
-
11
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
IONASESCU, V.V., C. SEARBY, V.C. SHEFFIELD, T. ROKLINA, D. NISHIMURA & R. IONASESCU. 1996. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum. Mol. Genet. 5: 1373-1375.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1373-1375
-
-
Ionasescu, V.V.1
Searby, C.2
Sheffield, V.C.3
Roklina, T.4
Nishimura, D.5
Ionasescu, R.6
-
12
-
-
0030035987
-
Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24
-
TIMMERMAN, V., P. DE JONGHE, S. SIMOKOVIC, A. LÖFGREN, J. BEUTEN, E. NELIS, C. CEUTERICK, J.-J. MARTIN & C. VAN BROECKHOVEN. 1996. Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24. Hum. Mol. Genet. 5: 1065-1069.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1065-1069
-
-
Timmerman, V.1
De Jonghe, P.2
Simokovic, S.3
Löfgren, A.4
Beuten, J.5
Nelis, E.6
Ceuterick, C.7
Martin, J.-J.8
Van Broeckhoven, C.9
-
13
-
-
0029653616
-
A second-generation YAC contig map of human chromosome 12
-
KRAUTER, K., K. MONTGOMERY, S.-L. YOON, J. LEBLANC-STRACESKI, B. RENAULT, I. MARONDEL, V. HERDMAN, L. CUPELLI, A. BANK, J. LIEMAN, J. MENNINGER, P. BRAY-WRD, P. NADKARNI, J. WEISSENBACH, LEPASLIER D., P. RIGAULT, I. CHUMAKOV, D. COHEN, P. MILLER, D. WARD & R. KUCHERLAPATI. 1995. A second-generation YAC contig map of human chromosome 12. Nature 377: 321-333.
-
(1995)
Nature
, vol.377
, pp. 321-333
-
-
Krauter, K.1
Montgomery, K.2
Yoon, S.-L.3
LeBlanc-Straceski, J.4
Renault, B.5
Marondel, I.6
Herdman, V.7
Cupelli, L.8
Bank, A.9
Lieman, J.10
Menninger, J.11
Bray-Wrd, P.12
Nadkarni, P.13
Weissenbach, J.14
LePaslier, D.15
Rigault, P.16
Chumakov, I.17
Cohen, D.18
Miller, P.19
Ward, D.20
Kucherlapati, R.21
more..
-
14
-
-
0031855489
-
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24
-
VAN DER VLEUTEN, A.J.W., C.M.A. VAN RAVENSWAAIJ-ARTS, C.J.M. FRIJNS, A.P.T. SMITS, G. HAGEMAN, G.W. PADBERG & H. KREMER. 1998. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Eur. J. Hum. Genet. 6: 376-382.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 376-382
-
-
Van Der Vleuten, A.J.W.1
Van Ravenswaaij-Arts, C.M.A.2
Frijns, C.J.M.3
Smits, A.P.T.4
Hageman, G.5
Padberg, G.W.6
Kremer, H.7
-
15
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-q24.1
-
GISPERT, S., R. TWELLS, G. OROZCO, A. BRICE, J. WEBER, L. HEREDERO, K. SCHEUFLER, B. RILEY, R. ALLOTEY, C. NOTHERS, R. HILLERMANN, A. LUNKES, C. KHATI, G. STEVANIN, A. HERNANDEZ, C. MAGARIQO, T. KLOCKGETHER, A. DURR, H. CHNEIWEISS, J. ENCZMANN, M. FARRALL, J. BECKMANN, M. MULLAN, P. WERNET, Y. AGID, H.-J. FREUND, R. WILLIAMSON, G. AUBURGER & S. CHAMBERLAIN. 1993. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-q24.1. Nature Genet. 4: 295-299.
-
(1993)
Nature Genet.
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillermann, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magariqo, C.16
Klockgether, T.17
Durr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farrall, M.21
Beckmann, J.22
Mullan, M.23
Wernet, P.24
Agid, Y.25
Freund, H.-J.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
16
-
-
0028085643
-
Evaluation of 13 short tandem repeat loci in personal identification applications
-
HAMMOND, H.A., L. JIN, Y. ZHONG, C.T. CASKEY & R. CHAKRABORTY. 1994. Evaluation of 13 short tandem repeat loci in personal identification applications. Am. J. Hum. Genet. 55: 175-189.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 175-189
-
-
Hammond, H.A.1
Jin, L.2
Zhong, Y.3
Caskey, C.T.4
Chakraborty, R.5
|