-
1
-
-
67649357166
-
Hereditary spastic paraplegia
-
Eisen AA Shaw PJ (eds) Elsevier Science, Amsterdam
-
McDermott CJ, Shaw PJ: Hereditary spastic paraplegia. Eisen AA, Shaw PJ (eds): Handbook of Clinical Neurology, Vol. 82. Motor neuron disorders and related diseases. Elsevier Science, Amsterdam, 2007, pp327-352
-
(2007)
Handbook of Clinical Neurology, Vol. 82. Motor Neuron Disorders and Related Diseases
, pp. 327-352
-
-
McDermott, C.J.1
Shaw, P.J.2
-
2
-
-
84910045609
-
-
Annual Review, 2008, pp 198-211
-
(2008)
Annual Review
, pp. 198-211
-
-
-
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 44: 871-883,1981
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 871-883
-
-
Harding, A.E.1
-
4
-
-
84861618858
-
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
-
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, et al: Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1-18, 2012
-
(2012)
J Neurol Sci
, vol.318
, pp. 1-18
-
-
Finsterer, J.1
Löscher, W.2
Quasthoff, S.3
Wanschitz, J.4
Auer-Grumbach, M.5
-
5
-
-
0028217057
-
Spinocerebellar degenerations in Japan: A nationwide epidemiological and clinical study
-
Hirayama K, Takayanagi T, Nakamura R, Yanagis-awa N, Hattori T, et al: Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand 153: 1-22, 1994
-
(1994)
Acta Neurol Scand
, vol.153
, pp. 1-22
-
-
Hirayama, K.1
Takayanagi, T.2
Nakamura, R.3
Yanagis-Awa, N.4
Hattori, T.5
-
6
-
-
65849376966
-
Study group on ataxic diseases: Sporadic ataxias in japan: A population-based epidemiological study
-
Tsuji S, Onodera O, Goto J, Nishizawa M; Study Group on Ataxic Diseases: Sporadic ataxias in Japan: a population-based epidemiological study. Cerebellum 7: 189-197, 2008
-
(2008)
Cerebellum
, vol.7
, pp. 189-197
-
-
Tsuji, S.1
Onodera, O.2
Goto, J.3
Nishizawa, M.4
-
7
-
-
84910096885
-
-
(Spastic Paraplegia Research Consortium). JP, 2006, pp 115-118
-
(2006)
JP
, pp. 115-118
-
-
-
8
-
-
84872042551
-
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
-
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, et al: A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet 49: 777-784, 2012
-
(2012)
J Med Genet
, vol.49
, pp. 777-784
-
-
Shimazaki, H.1
Takiyama, Y.2
Ishiura, H.3
Sakai, C.4
Matsushima, Y.5
-
9
-
-
77955082781
-
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
-
Antonicka H, Ostergaard E, Sasarman F, Weraarpa-chai W, Wibrand F, et al: Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet 87:115-122, 2010
-
(2010)
Am J Hum Genet
, vol.87
, pp. 115-122
-
-
Antonicka, H.1
Ostergaard, E.2
Sasarman, F.3
Weraarpa-Chai, W.4
Wibrand, F.5
-
10
-
-
84898845708
-
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
-
Tucci A, Liu Y-T, Preza E, Pitceathly RD, Chalasani A, et al: Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry 85: 486-492, 2014
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, pp. 486-492
-
-
Tucci, A.1
Liu, Y.-T.2
Preza, E.3
Pitceathly, R.D.4
Chalasani, A.5
-
11
-
-
84905590433
-
Autosomal recessive complicated spastic paraplegia with lysosomal trafficking regulator gene mutation
-
2014 Feb 12 [ Epub ahead of print]
-
Shimazaki H, Honda J, Naoi T, Namekawa M, Na-kano I, et al: Autosomal recessive complicated spastic paraplegia with lysosomal trafficking regulator gene mutation. J Neurol Neurosurg Psychiatry, 2014 Feb 12 [Epub ahead of print]
-
J Neurol Neurosurg Psychiatry
-
-
Shimazaki, H.1
Honda, J.2
Naoi, T.3
Namekawa, M.4
Na-Kano, I.5
-
12
-
-
84883461543
-
Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms
-
Fink JK: Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126: 307-328, 2013
-
(2013)
Acta Neuropathol
, vol.126
, pp. 307-328
-
-
Fink, J.K.1
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