-
1
-
-
0001432872
-
Contribution to spinal marrow pathology
-
Strümpell A. Contribution to spinal marrow pathology (in German). Arch Psychiatr Nervenkr 1880;10:676-717.
-
(1880)
Arch Psychiatr Nervenkr
, vol.10
, pp. 676-717
-
-
Strümpell, A.1
-
2
-
-
0015945194
-
Strumpell's familial spastic paraplegia: Genetics and neuropathology
-
Behan WM, Maia M. Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 1974;37(1):8-20.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, Issue.1
, pp. 8-20
-
-
Behan, W.M.1
Maia, M.2
-
3
-
-
0019777963
-
Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
-
Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-883.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 871-883
-
-
Harding, A.E.1
-
4
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;11:151-1155.
-
(1983)
Lancet
, vol.11
, pp. 151-1155
-
-
Harding, A.E.1
-
5
-
-
0025353508
-
A quantitative study of sensory function in hereditary spastic paraplegia
-
Schady W, Sheard A. A quantitative study of sensory function in hereditary spastic paraplegia. Brain 1990;113:709-720.
-
(1990)
Brain
, vol.113
, pp. 709-720
-
-
Schady, W.1
Sheard, A.2
-
6
-
-
0002882906
-
Familial spastic paraplegia
-
Vinken PJ, Bruyn JW, editors. Amsterdam: North Holland
-
Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn JW, editors. Handbook of clinical neurology, Vol. 22, Amsterdam: North Holland, 1975. pp. 421-431.
-
(1975)
Handbook of Clinical Neurology
, vol.22
, pp. 421-431
-
-
Sutherland, J.M.1
-
7
-
-
0017585942
-
Strumpell's pure familial spastic paraplegia: Case study and review of the literature
-
Holmes GL, Shaywitz BA. Strumpell's pure familial spastic paraplegia: case study and review of the literature. J Neurol Neurosurg Psychiatry 1977;40:1003-1008.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 1003-1008
-
-
Holmes, G.L.1
Shaywitz, B.A.2
-
9
-
-
0023634009
-
Etiological heterogeneity in X-linked spastic paraplegia
-
Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987;41:933-943.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 933-943
-
-
Keppen, L.D.1
Leppert, M.F.2
O'Connell, P.3
-
10
-
-
0029822994
-
Extensive genetic heterogeneity in the 'pure' form of autosomal dominant ESP
-
Kobayashi H, Garcia CA, Tay PN, Huffman EP. Extensive genetic heterogeneity in the 'pure' form of autosomal dominant ESP. Muscle Nerve 1996;19(11):1435-1438.
-
(1996)
Muscle Nerve
, vol.19
, Issue.11
, pp. 1435-1438
-
-
Kobayashi, H.1
Garcia, C.A.2
Tay, P.N.3
Huffman, E.P.4
-
11
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically hetero-geneous and one locus maps to chromosome 14q
-
Hazan J, Lamy C, Melki J, Munnich A, De Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically hetero-geneous and one locus maps to chromosome 14q. Nat Genet 1993;5:163-167.
-
(1993)
Nat Genet
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Recondo, J.5
Weissenbach, J.6
-
12
-
-
0028872909
-
Autosomal dominant familial spastic paraplegia: Reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity
-
Gispert S, Santos N, Damen R, et al. Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 1995;56:183-187.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 183-187
-
-
Gispert, S.1
Santos, N.2
Damen, R.3
-
13
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan J, Fontaine B, Bruyn R, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994;3:1569-1573.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.3
-
14
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
-
Fink JK, Wu CB, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-192.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
Wu, C.B.2
Jones, S.M.3
-
15
-
-
0033073735
-
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
-
Hedera P, Rainer S, Alvarado D, et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet 1999;64:563-569.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 563-569
-
-
Hedera, P.1
Rainer, S.2
Alvarado, D.3
-
16
-
-
0033362081
-
A new locus for autosomal dominant "Pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
-
Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant "Pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet 1999;65(3):757-763.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.3
, pp. 757-763
-
-
Reid, E.1
Dearlove, A.M.2
Rhodes, M.3
Rubinsztein, D.C.4
-
17
-
-
0033912569
-
A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13
-
Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000;66(2):728-732.
-
(2000)
Am J Hum Genet
, vol.66
, Issue.2
, pp. 728-732
-
-
Reid, E.1
Dearlove, A.M.2
Osborn, O.3
Rogers, M.T.4
Rubinsztein, D.C.5
-
18
-
-
0033912567
-
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
-
Fontaine B, Davoine CS, Durr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000;66(2):702-707.
-
(2000)
Am J Hum Genet
, vol.66
, Issue.2
, pp. 702-707
-
-
Fontaine, B.1
Davoine, C.S.2
Durr, A.3
-
19
-
-
0033069503
-
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
-
Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999;64:586-593.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
-
20
-
-
0028145138
-
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A, Pericak-Vance MA, Hung W-Y, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-1267.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1263-1267
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Hung, W.-Y.3
-
21
-
-
0032231934
-
A new locus for autosomal recessive Hereditary spastic paraplegia maps to chromosome 16q24.3
-
De Michele G, De Fusco M, Cavalcanti F, et al. A new locus for autosomal recessive Hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998;63:135-139.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 135-139
-
-
De Michele, G.1
De Fusco, M.2
Cavalcanti, F.3
-
22
-
-
0345279856
-
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
-
Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999;53(1):50-56.
-
(1999)
Neurology
, vol.53
, Issue.1
, pp. 50-56
-
-
Martinez Murillo, F.1
Kobayashi, H.2
Pegoraro, E.3
-
23
-
-
0014301112
-
Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
-
Dyck PJ, Lambert EHI. Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyck, P.J.1
Lambert, E.H.I.2
-
25
-
-
0017648231
-
Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography
-
Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977;100:41-66.
-
(1977)
Brain
, vol.100
, pp. 41-66
-
-
Buchthal, F.1
Behse, F.2
-
26
-
-
0017737177
-
Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves
-
Behse F, Buchthal F. Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain 1977;100:67-85.
-
(1977)
Brain
, vol.100
, pp. 67-85
-
-
Behse, F.1
Buchthal, F.2
-
27
-
-
0026564532
-
Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature
-
Gemignani F, Guidetti D, Bizzi P, Preda P, Cenacchi G, Marbini A. Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol 1992;83(2):196-201.
-
(1992)
Acta Neuropathol
, vol.83
, Issue.2
, pp. 196-201
-
-
Gemignani, F.1
Guidetti, D.2
Bizzi, P.3
Preda, P.4
Cenacchi, G.5
Marbini, A.6
-
28
-
-
0015990238
-
Motor nerve conduction velocity in peroneal muscular atrophy: Evidence for genetic heterogeneity
-
Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974;37(1):68-75.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, Issue.1
, pp. 68-75
-
-
Thomas, P.K.1
Calne, D.B.2
-
29
-
-
0001768884
-
Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons
-
Dick PJ, Thomas PK, Lambert EH, editors. Philadelphia, PA: Saunders
-
Dick PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dick PJ, Thomas PK, Lambert EH, editors. Peripheral neuropathy, Philadelphia, PA: Saunders, 1975. pp. 825-867.
-
(1975)
Peripheral Neuropathy
, pp. 825-867
-
-
Dick, P.J.1
-
30
-
-
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, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 1993;17:370-375.
-
(1993)
Genomics
, vol.17
, pp. 370-375
-
-
Ben Othmane, K.1
Middleton, L.T.2
Loprest, L.J.3
-
31
-
-
0029150128
-
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon JM, Elliott JL, Yee W-C, Ivanovich J, Scavarda N. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;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.5
-
32
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 1996;5:1373-1375.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1373-1375
-
-
Ionasescu, V.1
Searby, C.2
Sheffield, V.C.3
Roklina, T.4
Nishimura, D.5
Ionasescu, R.6
-
33
-
-
0010669659
-
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome Iq21.2-q21.3
-
Bouhouche A, Benomar A, Birouk N, et al. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome Iq21.2-q21.3. Am J Hum Genet 1999;65(3):722-727.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.3
, pp. 722-727
-
-
Bouhouche, A.1
Benomar, A.2
Birouk, N.3
-
34
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Poleski HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:55.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 55
-
-
Miller, S.A.1
Dykes, D.D.2
Poleski, H.F.3
-
35
-
-
0027512686
-
Genetic and population study of a X-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique
-
Santos FR, Pena SDJ, Epplen JT. Genetic and population study of a X-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum Genet 1993;90:655-656.
-
(1993)
Hum Genet
, vol.90
, pp. 655-656
-
-
Santos, F.R.1
Pena, S.D.J.2
Epplen, J.T.3
-
38
-
-
0027985389
-
Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): A clinical, neurophysiological and pathological study of a large kindred
-
Frith JA, McLeod JG, Nicholson GA, Yang F. Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological and pathological study of a large kindred. J Neurol Neurosurg Psychiatry 1994;57:1343-1346.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 1343-1346
-
-
Frith, J.A.1
McLeod, J.G.2
Nicholson, G.A.3
Yang, F.4
-
39
-
-
0018351601
-
Peripheral nerve involvement in familial spastic paraplegia
-
Tredici G, Minoli G. Peripheral nerve involvement in familial spastic paraplegia. Arch Neurol 1979;36:236-239.
-
(1979)
Arch Neurol
, vol.36
, pp. 236-239
-
-
Tredici, G.1
Minoli, G.2
-
40
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
-
41
-
-
0033015744
-
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
-
Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999;52(9):1827-1832.
-
(1999)
Neurology
, vol.52
, Issue.9
, pp. 1827-1832
-
-
Timmerman, V.1
De Jonghe, P.2
Ceuterick, C.3
|