-
1
-
-
33846583895
-
Hereditary forms of vascular dementia
-
Kalimo H, ed. Basel, Switzerland: ISN Neuropath Press
-
Kalimo H, Kalaria R. Hereditary forms of vascular dementia. In: Kalimo H, ed. Pathology & Genetics: Cerebrovascular Diseases. Basel, Switzerland: ISN Neuropath Press, 2005:324-334.
-
(2005)
Pathology & Genetics: Cerebrovascular Diseases
, pp. 324-334
-
-
Kalimo, H.1
Kalaria, R.2
-
2
-
-
33745547032
-
Single gene disorders causing ischaemic stroke
-
DOI 10.1007/s00415-006-0048-8
-
Razvi SS, Bone I. Single-gene disorders causing ischemic stroke. J Neurol 2006;253:685-700. (Pubitemid 43980137)
-
(2006)
Journal of Neurology
, vol.253
, Issue.6
, pp. 685-700
-
-
Razvi, S.S.M.1
Bone, I.2
-
3
-
-
34748820096
-
Monogenic vessel diseases related to ischemic stroke: A clinical approach
-
DOI 10.1038/sj.jcbfm.9600520, PII 9600520
-
Ballabio E, Bersano A, Bresolin N, et al. Monogenic vessel diseases related to ischemic stroke: A clinical approach. J Cereb Blood Flow Metab 2007;27:1649-1662. (Pubitemid 47476103)
-
(2007)
Journal of Cerebral Blood Flow and Metabolism
, vol.27
, Issue.10
, pp. 1649-1662
-
-
Ballabio, E.1
Bersano, A.2
Bresolin, N.3
Candelise, L.4
-
4
-
-
16044362074
-
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
-
DOI 10.1038/383707a0
-
Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710. (Pubitemid 26360644)
-
(1996)
Nature
, vol.383
, Issue.6602
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
Vahedi, K.4
Chabriat, H.5
Mouton, P.6
Alamowitch, S.7
Domenga, V.8
Cecillion, M.9
Marechal, E.10
Maciazek, J.11
Vayssiere, C.12
Cruaud, C.13
Cabanis, E.-A.14
Ruchoux, M.M.15
Weissanbach, J.16
Bach, J.F.17
Bousser, M.G.18
Tournier-Lasserve, E.19
-
5
-
-
0028905614
-
Familial young adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension
-
Fukutake T, Hirayama K. Familial young adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 1995;35:69-79.
-
(1995)
Eur Neurol
, vol.35
, pp. 69-79
-
-
Fukutake, T.1
Hirayama, K.2
-
6
-
-
0028108538
-
Progress in the genetics of cerebrovascular disease: Inherited subcortical arteriopathies
-
Bowler JV, Hachinski V. Progress in the genetics of cerebrovascular disease: Inherited subcortical arteriopathies. Stroke 1994;25:1696-1698. (Pubitemid 24233982)
-
(1994)
Stroke
, vol.25
, Issue.8
, pp. 1696-1698
-
-
Bowler, J.V.1
Hachinski, V.2
-
7
-
-
67349200043
-
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features
-
Zheng DM, Xu FF, Gao Y, et al. A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features. J Clin Neurosci 2009;16:847-849.
-
(2009)
J Clin Neurosci
, vol.16
, pp. 847-849
-
-
Zheng, D.M.1
Xu, F.F.2
Gao, Y.3
-
9
-
-
7144255183
-
Familial juvenile arteriosclerotic leukoencephalopathy with diffuse baldness and skeletal system disorders
-
in Japanese with English abstract
-
Fukutake T, Hirayama K. Familial juvenile arteriosclerotic leukoencephalopathy with diffuse baldness and skeletal system disorders. Adv Neurol Sci 1992;36:70-80 (in Japanese with English abstract).
-
(1992)
Adv Neurol Sci
, vol.36
, pp. 70-80
-
-
Fukutake, T.1
Hirayama, K.2
-
10
-
-
79951903501
-
Young adult-onset Binswanger-type leukoencephalopathy with alopecia and lumbago
-
in Japanese
-
Fukutake T. Young adult-onset Binswanger-type leukoencephalopathy with alopecia and lumbago. Neurol Med 1998;49:426-431 (in Japanese).
-
(1998)
Neurol Med
, vol.49
, pp. 426-431
-
-
Fukutake, T.1
-
11
-
-
79951884201
-
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A severe model of cerebral small vessel diseases frequently seen in Japan
-
in Japanese
-
Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A severe model of cerebral small vessel diseases frequently seen in Japan. Neurol Med 2006;65:460-467 (in Japanese).
-
(2006)
Neurol Med
, vol.65
, pp. 460-467
-
-
Fukutake, T.1
-
12
-
-
79951863100
-
Einige beitrage zur Encephalitis subcorticalis chronica progressiva (Binswanger)
-
Sendai, Japan: Tohoku University, (in Japanese with German abstract) [Author's translation]
-
Nemoto S. Einige beitrage zur Encephalitis subcorticalis chronica progressiva (Binswanger) [A note on chronic progressive subcortical encephalitis (Binswanger)]. In: Festschrift zum Rucktritt von Prof. Toshimi Ishibashi [Memorial for the retirement of Prof. Toshimi Ishibashi]. Sendai, Japan: Tohoku University, 1966:51-67 (in Japanese with German abstract) [Author's translation].
-
(1966)
Festschrift Zum Rucktritt Von Prof. Toshimi Ishibashi [Memorial for the Retirement of Prof. Toshimi Ishibashi]
, pp. 51-67
-
-
Nemoto, S.1
-
13
-
-
7144254112
-
Record of clinicopathlogical conference. Case 174: Multiple softening in the cerebral white matter caused by cerebral angitis (Binswanger's disease)
-
in Japanese
-
Maeda S, Nemoto S, Suwa N, et al. Record of clinicopathlogical conference. Case 174: Multiple softening in the cerebral white matter caused by cerebral angitis (Binswanger's disease). Saishin Igaku 1965;20:933-940 (in Japanese).
-
(1965)
Saishin Igaku
, vol.20
, pp. 933-940
-
-
Maeda, S.1
Nemoto, S.2
Suwa, N.3
-
14
-
-
0017072046
-
Familial unusual encephalopathy of Binswanger's type without hypertension
-
in Japanese with English abstract
-
Maeda S, Yokoi S, Nakayama H, et al. Familial unusual encephalopathy of Binswanger's type without hypertension. Adv Neurol Sci 1976;20:150-158 (in Japanese with English abstract).
-
(1976)
Adv Neurol Sci
, vol.20
, pp. 150-158
-
-
Maeda, S.1
Yokoi, S.2
Nakayama, H.3
-
15
-
-
0017140935
-
Familial unusual encephalopathy of Binswanger's type without hypertension
-
Maeda S, Nakayama H, Isaka K, et al. Familial unusual encephalopathy of Binswanger's type without hypertension. Folia Psychiatr Neurol Jpn 1976;30:165-177.
-
(1976)
Folia Psychiatr Neurol Jpn
, vol.30
, pp. 165-177
-
-
Maeda, S.1
Nakayama, H.2
Isaka, K.3
-
16
-
-
3342888638
-
An autopsy case of chronic progressive subcortical encephalopathy without hypertension
-
in Japanese with English abstract
-
Tanaka M, Ikuta F, Oyake Y. An autopsy case of chronic progressive subcortical encephalopathy without hypertension. Clin Neurol 1969;9:348-355 (in Japanese with English abstract).
-
(1969)
Clin Neurol
, vol.9
, pp. 348-355
-
-
Tanaka, M.1
Ikuta, F.2
Oyake, Y.3
-
17
-
-
0014823801
-
Uber eine autoptischen Fall von de rim ZNS lokalisierten nekrotisierenden Angitis (Periarteritis nodosa?)
-
in Japanese with English abstract [Author's translation]
-
Kondo S, Ogasawara S, Ito T, et al. Uber eine autoptischen Fall von de rim ZNS lokalisierten nekrotisierenden Angitis (Periarteritis nodosa?) [A autopsy case of necrotizing angiitis (periarteritis nodosa?) localized to CNS]. Adv Neurol Sci (Shinkei Kenkyu no Shinpo) 1970; 14:274-284 (in Japanese with English abstract) [Author's translation].
-
(1970)
Adv Neurol Sci (Shinkei Kenkyu No Shinpo)
, vol.14
, pp. 274-284
-
-
Kondo, S.1
Ogasawara, S.2
Ito, T.3
-
18
-
-
0022261473
-
Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago: A syndrome
-
in Japanese with English abstract
-
Fukutake T, Hattori T, Kita K, et al. Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago: A syndrome. Clin Neurol 1985;25:949-955 (in Japanese with English abstract).
-
(1985)
Clin Neurol
, vol.25
, pp. 949-955
-
-
Fukutake, T.1
Hattori, T.2
Kita, K.3
-
19
-
-
79951895947
-
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencepahlopathy (CARASIL) presenting with cerebral small-vessel disease, alopecia and spinal degeneration
-
in Japanese
-
Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencepahlopathy (CARASIL) presenting with cerebral small-vessel disease, alopecia and spinal degeneration. Neurol Med 2010;72:391-399 (in Japanese).
-
(2010)
Neurol Med
, vol.72
, pp. 391-399
-
-
Fukutake, T.1
-
20
-
-
65949097072
-
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease
-
Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med 2009;360:1729-1739.
-
(2009)
N Engl J Med
, vol.360
, pp. 1729-1739
-
-
Hara, K.1
Shiga, A.2
Fukutake, T.3
-
21
-
-
79951860849
-
Young adult-onset Binswanger-type leukoencephalopathy with alopecia and spondylosis deformans: Report of a female case
-
in Japanese with English abstract
-
Iwasaki Y, Kato T, Sone M, et al. Young adult-onset Binswanger-type leukoencephalopathy with alopecia and spondylosis deformans: Report of a female case. Neurol Med 1997;47:593-600 (in Japanese with English abstract).
-
(1997)
Neurol Med
, vol.47
, pp. 593-600
-
-
Iwasaki, Y.1
Kato, T.2
Sone, M.3
-
22
-
-
0023147465
-
Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature
-
DOI 10.1016/0022-510X(87)90059-1
-
Yamamura T, Nishimura M, Shirabe T, et al. Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans: A clinicopathological study and review of the literature. J Neurol Sci 1987;78:175-188. (Pubitemid 17031711)
-
(1987)
Journal of the Neurological Sciences
, vol.78
, Issue.2
, pp. 175-188
-
-
Yamamura, T.1
Nishimura, M.2
Shirabe, T.3
Fujita, M.4
-
23
-
-
0027293562
-
Juvenile Binswanger-type encephalopathy with alopecia and spondylosis deformans
-
in Japanese with English abstract
-
Arisato T, Hokezu Y, Suehara M, et al. Juvenile Binswanger-type encephalopathy with alopecia and spondylosis deformans. Clin Neurol 1993;33:400-404 (in Japanese with English abstract).
-
(1993)
Clin Neurol
, vol.33
, pp. 400-404
-
-
Arisato, T.1
Hokezu, Y.2
Suehara, M.3
-
24
-
-
79951892854
-
A female case of young adult-onset subcortical encephalopathy with diffuse baldness and spondylosis
-
in Japanese with English abstract
-
Shizuma N, Ikeguchi K, Hiranouchi N, et al. A female case of young adult-onset subcortical encephalopathy with diffuse baldness and spondylosis. Neurol Med 1993;39:406-410 (in Japanese with English abstract).
-
(1993)
Neurol Med
, vol.39
, pp. 406-410
-
-
Shizuma, N.1
Ikeguchi, K.2
Hiranouchi, N.3
-
26
-
-
0037066143
-
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
-
Yanagawa S, Ito N, Arima K, et al. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002;58:817-820. (Pubitemid 34211566)
-
(2002)
Neurology
, vol.58
, Issue.5
, pp. 817-820
-
-
Yanagawa, S.1
Ito, N.2
Arima, K.3
Ikeda, S.-I.4
-
27
-
-
67649410561
-
Case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencepahlopathy (CARASIL)
-
in Japanese with English abstract
-
Hashida N, Ito S, Hasegawa T, et al. Case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencepahlopathy (CARASIL). Nippon Ganka Gakkai Zasshi 2009;13:505-512 (in Japanese with English abstract).
-
(2009)
Nippon Ganka Gakkai Zasshi
, vol.13
, pp. 505-512
-
-
Hashida, N.1
Ito, S.2
Hasegawa, T.3
-
28
-
-
0031784085
-
Patterns of MRI lesions in CADASIL
-
Chabriat H, Levy C, Taillia H, et al. Patterns of MRI lesions in CADASIL. Neurology 1998;51:452-457. (Pubitemid 28406321)
-
(1998)
Neurology
, vol.51
, Issue.2
, pp. 452-457
-
-
Chabriat, H.1
Levy, C.2
Taillia, H.3
Iba-Zizen, M.-T.4
Vahedi, K.5
Joutel, A.6
Tournier-Lasserve, E.7
Bousser, M.-G.8
-
30
-
-
0033755757
-
Differences in MRI lesion patterns of two hereditary vascular leukoencephalopathy: CADASIL and CARASIL
-
abstract
-
Fukutake T, Shimoe Y, Hattori T. Differences in MRI lesion patterns of two hereditary vascular leukoencephalopathy: CADASIL and CARASIL [abstract]. J Stroke Cerebrovasc Dis 2000;9(Suppl 1):263-264.
-
(2000)
J Stroke Cerebrovasc Dis
, vol.9
, Issue.SUPPL. 1
, pp. 263-264
-
-
Fukutake, T.1
Shimoe, Y.2
Hattori, T.3
-
31
-
-
79951929030
-
An autopsy case of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
-
abstract PB-02
-
Nakano I, Kawada T, Namekawa T, et al. An autopsy case of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Progams and Abstracts of the 7th European Congress of Neuropathology, Helsinki, Finland, July 14-17, 2002, abstract PB-02.
-
Progams and Abstracts of the 7th European Congress of Neuropathology, Helsinki, Finland, July 14-17, 2002
-
-
Nakano, I.1
Kawada, T.2
Namekawa, T.3
-
32
-
-
0346847505
-
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)
-
DOI 10.1046/j.1440-1789.2003.00519.x
-
Arima K, Yanagawa S, Ito N, et al. Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). Neuropathology 2003;23:327-334. (Pubitemid 38004867)
-
(2003)
Neuropathology
, vol.23
, Issue.4
, pp. 327-334
-
-
Arima, K.1
Yanagawa, S.2
Ito, N.3
Ikeda, S.-I.4
-
33
-
-
33751011889
-
HTRA1 promoter polymorphism in wet age-related macular degeneration
-
DOI 10.1126/science.1133807
-
Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 2006;314:989-992. (Pubitemid 44749943)
-
(2006)
Science
, vol.314
, Issue.5801
, pp. 989-992
-
-
DeWan, A.1
Liu, M.2
Hartman, S.3
Zhang, S.S.-M.4
Liu, D.T.L.5
Zhao, C.6
Tam, P.O.S.7
Chan, W.M.8
Lam, D.S.C.9
Snyder, M.10
Barnstable, C.11
Pang, C.P.12
Hoh, J.13
-
34
-
-
79951876208
-
A female case of young adult-onset Binswanger disease-like leukoencepahlopathy with alopecia and lumbago without hypertension
-
abstract. in Japanese
-
Shiota H, Shinbo A, Tamura M, et al. A female case of young adult-onset Binswanger disease-like leukoencepahlopathy with alopecia and lumbago without hypertension [abstract]. Clin Neurol 2001;41:338 (in Japanese).
-
(2001)
Clin Neurol
, vol.41
, pp. 338
-
-
Shiota, H.1
Shinbo, A.2
Tamura, M.3
-
35
-
-
1542313954
-
Transforming Growth Factor β and Atherosclerosis: So Far, so Good for the Protective Cytokine Hypothesis
-
DOI 10.1161/01.ATV.0000114567.76772.33
-
Grainger DJ. Transforming growth factor β and atherosclerosis: So far, so good for the protective cytokine hypothesis. Arterioscler Thromb Vasc Biol 2004;24:399-404. (Pubitemid 38326130)
-
(2004)
Arteriosclerosis, Thrombosis, and Vascular Biology
, vol.24
, Issue.3
, pp. 399-404
-
-
Grainger, D.J.1
-
36
-
-
35448991324
-
Extracellular control of TGFβ signaling in vascular development and disease
-
ten Dijke P, Arthur HM. Extracellular control of TGFβ signaling in vascular development and disease. Nat Rev Mol Cell Biol 2007;8:857-869.
-
(2007)
Nat Rev Mol Cell Biol
, vol.8
, pp. 857-869
-
-
Ten Dijke, P.1
Arthur, H.M.2
-
37
-
-
0035979272
-
Conditional epidermal expression of TGFβ1 blocks neonatal lethality but causes a reversible hyperplasia and alopecia
-
DOI 10.1073/pnas.161016098
-
Liu X, Alexander V, Vijayachandra K, et al. Conditional epidermal expression of TGFβ-1 blocks neonatal lethality but causes a reversible hyperplasia and alopecia. Proc Natl Acad Sci USA 2001;98:9139-9144. (Pubitemid 32743882)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.16
, pp. 9139-9144
-
-
Liu, X.1
Alexander, V.2
Vijayachandra, K.3
Bhogte, E.4
Diamond, I.5
Glick, A.6
-
38
-
-
0037241807
-
Bone morphogenetic proteins and their antagonists in skin and hair follicle biology
-
DOI 10.1046/j.1523-1747.2003.12002.x
-
Botchkarev VA. Bone morphogenetic proteins and their antagonists in skin and hair follicle biology. J Invest Dermatol 2003;120:36-47. (Pubitemid 36124035)
-
(2003)
Journal of Investigative Dermatology
, vol.120
, Issue.1
, pp. 36-47
-
-
Botchkarev, V.A.1
-
39
-
-
13444296903
-
Multiple functions of BMPs in chondrogenesis
-
Yoon BS, Lyons KM. Multiple functions of BMPs in chondrogenesis. J Cell Biochem 2004;93:93-103.
-
(2004)
J Cell Biochem
, vol.93
, pp. 93-103
-
-
Yoon, B.S.1
Lyons, K.M.2
-
40
-
-
41949118339
-
HtrA1 inhibits mineral deposition by osteoblasts: Requirement for the protease and PDZ domains
-
Hadfield KD, Rock CF, Inkson CA, et al. HtrA1 inhibits mineral deposition by osteoblasts: Requirement for the protease and PDZ domains J. Biol Chem 2008;283:5928-5938.
-
(2008)
J. Biol Chem
, vol.283
, pp. 5928-5938
-
-
Hadfield, K.D.1
Rock, C.F.2
Inkson, C.A.3
-
41
-
-
77952520252
-
Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women
-
Urano T, Narusawa K, Kobayashi S, et al. Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women. J Bone Miner Metab 2010;28:220-226.
-
(2010)
J Bone Miner Metab
, vol.28
, pp. 220-226
-
-
Urano, T.1
Narusawa, K.2
Kobayashi, S.3
-
42
-
-
0028661118
-
Binswanger's type encephalopathy without alopecia and lumbago in young hypotensive patients
-
in Japanese with English abstract
-
Kusuhara T, Hino H, Ayabe M, et al. Binswanger's type encephalopathy without alopecia and lumbago in young hypotensive patients. Clin Neurol 1994;34:1142-1147 (in Japanese with English abstract).
-
(1994)
Clin Neurol
, vol.34
, pp. 1142-1147
-
-
Kusuhara, T.1
Hino, H.2
Ayabe, M.3
-
43
-
-
0027891893
-
An autopsy case of Binswanger's disease without hypertension and associated with cerebral infarction in the terminal stage
-
Iijima M, Ishino H, Seno H, et al. An autopsy case of Binswanger's disease without hypertension and associated with cerebral infarction in the terminal stage. Jpn J Psychiatry Neurol 1993;47:901-907. (Pubitemid 24087706)
-
(1993)
Japanese Journal of Psychiatry and Neurology
, vol.47
, Issue.4
, pp. 901-907
-
-
Iijima, M.1
Ishino, H.2
Seno, H.3
Inagaki, T.4
Haruki, S.5
-
44
-
-
79951928187
-
Progressive subcortical vascular encephalopathy of Binswanger type without hypertension in elderly siblings
-
in Japanese
-
Kamioka Y, Nishimura S, Kanoh M. Progressive subcortical vascular encephalopathy of Binswanger type without hypertension in elderly siblings. Seishin Igaku 1991;33:243-250 (in Japanese).
-
(1991)
Seishin Igaku
, vol.33
, pp. 243-250
-
-
Kamioka, Y.1
Nishimura, S.2
Kanoh, M.3
-
46
-
-
0030712287
-
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
-
Jen J, Cohen AH, Yue Q, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 1997;49:1322-1330. (Pubitemid 27495637)
-
(1997)
Neurology
, vol.49
, Issue.5
, pp. 1322-1330
-
-
Jen, J.1
Cohen, A.H.2
Yue, Q.3
Stout, J.T.4
Vinters, H.V.5
Nelson, S.6
Baloh, R.W.7
-
47
-
-
34548334617
-
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
-
Richards A, van den Maagdenberg AH, Jen JC, et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007;39:1068-1070.
-
(2007)
Nat Genet
, vol.39
, pp. 1068-1070
-
-
Richards, A.1
Van Den Maagdenberg, A.H.2
Jen, J.C.3
-
48
-
-
37549015654
-
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
-
Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007;357:2687-2695.
-
(2007)
N Engl J Med
, vol.357
, pp. 2687-2695
-
-
Plaisier, E.1
Gribouval, O.2
Alamowitch, S.3
-
49
-
-
34249800685
-
The cerebral vasculopathy of Fabry disease
-
DOI 10.1016/j.jns.2007.01.053, PII S0022510X07000561, Vascular Dementia Proceedings of the Fourth International Congress on Vascular Dementia
-
Moore DF, Kaneski CR, Askari H, et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007;257:258-263. (Pubitemid 46856501)
-
(2007)
Journal of the Neurological Sciences
, vol.257
, Issue.1-2
, pp. 258-263
-
-
Moore, D.F.1
Kaneski, C.R.2
Askari, H.3
Schiffmann, R.4
-
50
-
-
0025296269
-
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
-
Lewy E, Carman MD, Fernandez-Madrid IJ, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990;248:1124-1126.
-
(1990)
Science
, vol.248
, pp. 1124-1126
-
-
Lewy, E.1
Carman, M.D.2
Fernandez-Madrid, I.J.3
-
51
-
-
0034100159
-
Familial British dementia with amyloid angiopathy. Early clinical, neuropsychological and imaging findings
-
Mead S, James-Galton M, Revesz T, et al. Familial British dementia with amyloid angiopathy: Early clinical, neuropsychological and imaging findings. Brain 2000;123:975-991. (Pubitemid 30224193)
-
(2000)
Brain
, vol.123
, Issue.5
, pp. 975-991
-
-
Mead, S.1
James-Galton, M.2
Revesz, T.3
Doshi, R.B.4
Harwood, G.5
Lee, P.E.6
Ghiso, J.7
Frangione, B.8
Plant, G.9
-
52
-
-
0034712749
-
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
-
DOI 10.1073/pnas.080076097
-
Vidal R, Revesz T, Rosagno A, et al. A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc Natl Acad Sci USA 2000;97:4920-4925. (Pubitemid 30238658)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.9
, pp. 4920-4925
-
-
Vidal, R.1
Revesz, T.2
Rostagno, A.3
Kim, E.4
Holton, J.L.5
Bek, T.6
Bojsen-Moller, M.7
Braendgaard, H.8
Plant, G.9
Ghiso, J.10
Frangione, B.11
-
53
-
-
77957309998
-
Nasu-Hakola disease: The first case reported by Nasu and review
-
Kaneko M, Sano K, Nakayama J, et al. Nasu-Hakola disease: The first case reported by Nasu and review. Neuropathology 2010;30:463-470.
-
(2010)
Neuropathology
, vol.30
, pp. 463-470
-
-
Kaneko, M.1
Sano, K.2
Nakayama, J.3
-
54
-
-
0025739388
-
Striatal involvement on MRI in adrenomyeloneuropathy
-
in Japanese with English abstract
-
Fukutake T, Sakakibara R, Katayama K, et al. Striatal involvement on MRI in adrenomyeloneuropathy. Brain Nerve 1991;43:685-690 (in Japanese with English abstract).
-
(1991)
Brain Nerve
, vol.43
, pp. 685-690
-
-
Fukutake, T.1
Sakakibara, R.2
Katayama, K.3
-
55
-
-
0343527945
-
An X-linked gene involved in androgenetic alopecia: A lesson to be learned from adrenoleukodystrophy
-
Konig A, Happle R, Tchitcherina E, et al. An X-linked gene involved in androgenetic alopecia: A lesson to be learned from adrenoleukodystrophy. Dermatology 2000;200:213-218. (Pubitemid 30265305)
-
(2000)
Dermatology
, vol.200
, Issue.3
, pp. 213-218
-
-
Konig, A.1
Happle, R.2
Tchitcherina, E.3
Schaefer, J.R.4
Sokolowski, P.5
Kohler, W.6
Hoffmann, R.7
-
56
-
-
33845269544
-
Hutchinson-Gilford progeria syndrome: Review of the phenotype
-
DOI 10.1002/ajmg.a.31346
-
Hennekam RCM. Hutchinson-Gilford progeria syndrome: Review of the phenotype. Am J Med Genet 2006;140A:2603-2624. (Pubitemid 44865091)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.23
, pp. 2603-2624
-
-
Hennekam, R.C.M.1
-
57
-
-
55749095542
-
The clinical characteristics of Werner syndrome: Molecular and biochemical diagnosis
-
Muftuoglu M, Oshima J, von Kobbe C, et al. The clinical characteristics of Werner syndrome: Molecular and biochemical diagnosis. Hum Genet 2008;124:369-377.
-
(2008)
Hum Genet
, vol.124
, pp. 369-377
-
-
Muftuoglu, M.1
Oshima, J.2
Von Kobbe, C.3
|