-
1
-
-
77953192648
-
Peroxisomal disorders.
-
In: Love S, Louis DN, Ellison D, eds London, UK: Hodder Arnold
-
Powers JM. Peroxisomal disorders. In: Love S, Louis DN, Ellison D, eds. Greenfield's Neuropathology. 8th ed. London, UK: Hodder Arnold, 2008:643-73
-
(2008)
Greenfield's Neuropathology. 8th Ed
, pp. 643-673
-
-
Powers, J.M.1
-
2
-
-
77956679933
-
Adult-onset leukodystrophy with axonal spheroids
-
Mendes A, Pinto M, Vieira S, et al. Adult-onset leukodystrophy with axonal spheroids. J Neurol Sci 2010;297:40-45
-
(2010)
J Neurol Sci
, vol.297
, pp. 40-45
-
-
Mendes, A.1
Pinto, M.2
Vieira, S.3
-
3
-
-
84878859777
-
Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: Report of five cases and a new mutation
-
Kleinfeld K, Mobley B, Hedera P, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: Report of five cases and a new mutation. J Neurol 2013;260:558-71
-
(2013)
J Neurol
, vol.260
, pp. 558-571
-
-
Kleinfeld, K.1
Mobley, B.2
Hedera, P.3
-
4
-
-
45849120948
-
Leukoencephalopathies associated with inborn errors of metabolism in adults
-
Sedel F, Tourbah A, Fontaine B, et al. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis 2008;31: 295-307
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 295-307
-
-
Sedel, F.1
Tourbah, A.2
Fontaine, B.3
-
5
-
-
0021146259
-
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis
-
Eldridge R, Anayiotos CP, Schlesinger S, et al. Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 1984;311:948-53 (Pubitemid 14002057)
-
(1984)
New England Journal of Medicine
, vol.311
, Issue.15
, pp. 948-953
-
-
Eldridge, R.1
Anayiotos, C.P.2
Schlesinger, S.3
-
6
-
-
79951557689
-
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
-
Schuster J, Sundblom J, Thuresson A-C, et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 2011; 12:65-72
-
(2011)
Neurogenetics
, vol.12
, pp. 65-72
-
-
Schuster, J.1
Sundblom, J.2
Thuresson, A.-C.3
-
7
-
-
33748051742
-
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
-
Melberg A, Hallberg L, Kalimo H, et al. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Am J Neuroradiol 2006;27:904-11 (Pubitemid 44897747)
-
(2006)
American Journal of Neuroradiology
, vol.27
, Issue.4
, pp. 904-911
-
-
Melberg, A.1
Hallberg, L.2
Kalimo, H.3
Raininko, R.4
-
8
-
-
33749045115
-
Lamin B1 duplications cause autosomal dominant leukodystrophy
-
DOI 10.1038/ng1872, PII NG1872
-
Padiath QS, Saigoh K, Schiffmann R, et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 2006;38:1114-23 (Pubitemid 44470356)
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1114-1123
-
-
Padiath, Q.S.1
Saigoh, K.2
Schiffmann, R.3
Asahara, H.4
Yamada, T.5
Koeppen, A.6
Hogan, K.7
Ptacek, L.J.8
Fu, Y.-H.9
-
9
-
-
84881551759
-
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: A phenotypic variant
-
Potic A, Pavlovic AM, Uziel G, et al. Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: A phenotypic variant. J Neurol 2013;260:2124-29
-
(2013)
J Neurol
, vol.260
, pp. 2124-2129
-
-
Potic, A.1
Pavlovic, A.M.2
Uziel, G.3
-
10
-
-
77949623995
-
A family with autosomal dominant leukodystrophy linked to 5-23.2-q23.3 without lamin B1 mutations
-
Brussino A, Vaula G, Cagnoli C, et al. A family with autosomal dominant leukodystrophy linked to 5-23.2-q23.3 without lamin B1 mutations. Eur J Neurol 2010;17:541-49
-
(2010)
Eur J Neurol
, vol.17
, pp. 541-549
-
-
Brussino, A.1
Vaula, G.2
Cagnoli, C.3
-
11
-
-
20244376496
-
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy
-
Giordana MT, Piccinini M, Palmucci L, et al. Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy. Brain Pathol 2005;15:116-23 (Pubitemid 40546166)
-
(2005)
Brain Pathology
, vol.15
, Issue.2
, pp. 116-123
-
-
Giordana, M.T.1
Piccinini, M.2
Palmucci, L.3
Buccinna, B.4
Ramondetti, C.5
Brusco, A.6
Mongini, T.7
Leombruni, S.8
Vaula, G.9
Rinaudo, M.T.10
-
12
-
-
0029145584
-
Neuropathology and genetics of Pelizaeus-Merzbacher disease
-
Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 1995;5:267-73
-
(1995)
Brain Pathol
, vol.5
, pp. 267-273
-
-
Seitelberger, F.1
-
13
-
-
0007208587
-
Diffuse sclerosis with preserved myelin islands
-
Löwenberg K, Hill TS. Diffuse sclerosis with preserved myelin islands. Arch Neurol Psychiatry 1933;29:1232-45
-
(1933)
Arch Neurol Psychiatry
, vol.29
, pp. 1232-1245
-
-
Löwenberg, K.1
Hill, T.S.2
-
14
-
-
0344778553
-
An american family with Pelizaeus-Merzbacher disease
-
Camp CD, Löwenberg K. An american family with Pelizaeus-Merzbacher disease. Arch Neurol Psychiatry 1941;45:261-64
-
(1941)
Arch Neurol Psychiatry
, vol.45
, pp. 261-264
-
-
Camp, C.D.1
Löwenberg, K.2
-
15
-
-
0033960318
-
Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene
-
Sasaki A, Miyanaga K, Ototsuji M, et al. Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene. Acta Neuropathol 2000;99:7-13 (Pubitemid 30093432)
-
(2000)
Acta Neuropathologica
, vol.99
, Issue.1
, pp. 7-13
-
-
Sasaki, A.1
Miyanaga, K.2
Ototsuji, M.3
Iwaki, A.4
Iwaki, T.5
Takahashi, S.6
Nakazato, Y.7
-
18
-
-
3042835568
-
Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy
-
DOI 10.1136/jnnp.2003.028431
-
Moro-de-Casillas M, Cohen M, Riley D. Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 2004;75: 1070-72 (Pubitemid 38869632)
-
(2004)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.75
, Issue.7
, pp. 1070-1072
-
-
Moro-De-Casillas, M.L.1
Cohen, M.L.2
Riley, D.E.3
-
19
-
-
84880281745
-
Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene
-
Guerreiro R, Kara E, Le Ber I, et al. Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 2013;70:875-82
-
(2013)
JAMA Neurol
, vol.70
, pp. 875-882
-
-
Guerreiro, R.1
Kara, E.2
Le Ber, I.3
-
20
-
-
54049156548
-
Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids
-
Van Gerpen JA, Wider C, Broderick DF, et al. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008;71:925-29
-
(2008)
Neurology
, vol.71
, pp. 925-929
-
-
Van Gerpen, J.A.1
Wider, C.2
Broderick, D.F.3
-
21
-
-
57449115006
-
Adult-onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations
-
Freeman SH, Hyman BT, Sims KB, et al. Adult-onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations. Brain Pathol 2009;19:39-47
-
(2009)
Brain Pathol
, vol.19
, pp. 39-47
-
-
Freeman, S.H.1
Hyman, B.T.2
Sims, K.B.3
-
22
-
-
70349652243
-
Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids
-
Maillart E, Rousseau A, Galanaud D, et al. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 2009;256:1649-54
-
(2009)
J Neurol
, vol.256
, pp. 1649-1654
-
-
Maillart, E.1
Rousseau, A.2
Galanaud, D.3
-
23
-
-
2942676610
-
Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: Report of a family, historical perspective, and review of the literature
-
DOI 10.1007/s00401-004-0847-x
-
Marotti JD, Tobias S, Fratkin JD, et al. Adult-onset leukodystrophy with neuroaxonal spheroids and pigmented glia: Report of a family, historical perspective, and review of the literature. Acta Neuropathol 2004;107: 481-88 (Pubitemid 38765388)
-
(2004)
Acta Neuropathologica
, vol.107
, Issue.6
, pp. 481-488
-
-
Marotti, J.D.1
Tobias, S.2
Fratkin, J.D.3
Powers, J.M.4
Rhodes, C.H.5
-
24
-
-
34447321322
-
A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia - A role for oxidative damage
-
DOI 10.1097/nen.0b013e3180986247, PII 0000507220070700000011
-
Ali ZS, Van Der Voorn JP, Powers JM. A comparative morphologic analysis of adult-onset leukodystrophy with neuroaxonal spheroids and pigmented glia-a role for oxidative damage. J Neuropathol Exp Neurol 2007;66:660-72 (Pubitemid 47051711)
-
(2007)
Journal of Neuropathology and Experimental Neurology
, vol.66
, Issue.7
, pp. 660-672
-
-
Ali, Z.S.1
Van Der Voorn, J.P.2
Powers, J.M.3
-
25
-
-
84876233940
-
CSF1R mutations link POLD and HDLS as a single disease entity
-
Nicholson AM, Baker MC, Finch NA, et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013;80: 1033-40
-
(2013)
Neurology
, vol.80
, pp. 1033-1040
-
-
Nicholson, A.M.1
Baker, M.C.2
Finch, N.A.3
-
26
-
-
9044243020
-
Progressive familial leukodystrophy of late onset
-
Knopman D, Sung JH, Davis D. Progressive familial leukodystrophy of late onset. Neurology 1996;46:429-34 (Pubitemid 26081326)
-
(1996)
Neurology
, vol.46
, Issue.2
, pp. 429-434
-
-
Knopman, D.1
Sung, J.H.2
Davis, D.3
-
27
-
-
0030910788
-
A rare form of adult onset leukodystrophy: Orthochromatic leukodystrophy with pigmented glia
-
Shannon P, Wherrett JR, Nag S. A rare form of adult-onset leukodystrophy: Orthochromatic leukodystrophy with pigmented glia. Can J Neurol Sci 1997;24:146-50 (Pubitemid 27262424)
-
(1997)
Canadian Journal of Neurological Sciences
, vol.24
, Issue.2
, pp. 146-150
-
-
Shannon, P.1
Wherrett, J.R.2
Nag, S.3
-
28
-
-
84856273853
-
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
-
Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44:200-5
-
(2011)
Nat Genet
, vol.44
, pp. 200-205
-
-
Rademakers, R.1
Baker, M.2
Nicholson, A.M.3
-
29
-
-
0041542405
-
The pure leucodystrophic forms of orthochromatic leucodystrophies (simple type, pigment type)
-
In: Vinken PJ, Bruyn GW, eds Amsterdam North Holland: Elsevier
-
Peiffer J. The pure leucodystrophic forms of orthochromatic leucodystrophies (simple type, pigment type). In: Vinken PJ, Bruyn GW, eds. Leucodystrophies and Poliodystrophies (Handbook of Clinical Neurology, vol. 10). Amsterdam, North Holland: Elsevier; 1970;105-19
-
(1970)
Leucodystrophies and Poliodystrophies (Handbook of Clinical Neurology 10)
, pp. 105-119
-
-
Peiffer, J.1
-
30
-
-
84855475564
-
Adult-onset leucodystrophy with neuroaxonal spheroids and pigmented glia (ALSP): Report of a new kindred
-
Tan K, Brewer J, Rowe DB, et al. Adult-onset leucodystrophy with neuroaxonal spheroids and pigmented glia (ALSP): Report of a new kindred. Neuropathol Appl Neurobiol 2012;38:95-100
-
(2012)
Neuropathol Appl Neurobiol
, vol.38
, pp. 95-100
-
-
Tan, K.1
Brewer, J.2
Rowe, D.B.3
-
31
-
-
0018353566
-
Orthochromatic leukodystrophy with pigmented glial cells. An adult case with clinical-anatomical study
-
Pietrini V, Tagliavini F, Pilleri G, et al. Orthochromatic leukodystrophy with pigmented glial cells. An adult case with clinical-anatomical study. Acta Neurol Scand 1979;59:140-47 (Pubitemid 9175659)
-
(1979)
Acta Neurologica Scandinavica
, vol.59
, Issue.2-3
, pp. 140-147
-
-
Pietrini, V.1
Tagliavini, F.2
Pilleri, G.3
-
32
-
-
0023214352
-
Pigmentary type of orthochromatic leukodystrophy (OLD): A new case with ultrastructural and biochemical study
-
Gray F, Destee A, Bourre JM, et al. Pigmentary type of orthochromatic leukodystrophy (OLD): A new case with ultrastructural and biochemical study. J Neuropathol Exp Neurol 1987;46:585-96 (Pubitemid 17129787)
-
(1987)
Journal of Neuropathology and Experimental Neurology
, vol.46
, Issue.5
, pp. 585-596
-
-
Gray, F.1
Destee, A.2
Bourre, J.-M.3
-
33
-
-
0024040645
-
On the dual nature and lack of specificity of intracytoplasmic inclusions in a case of adult-onset orthochromatic leukodystrophy
-
Sotrel A. On the dual nature and lack of specificity of intracytoplasmic inclusions in a case of adult-onset orthochromatic leukodystrophy. J Neuropathol Exp Neurol 1988;47:490-91
-
(1988)
J Neuropathol Exp Neurol
, vol.47
, pp. 490-491
-
-
Sotrel, A.1
-
34
-
-
0024464282
-
Adult pigment type (Peiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings
-
Okeda R, Matsuo T, Kawahara Y, et al. Adult pigment type (Peiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings. Acta Neuropathol 1989;78:533-42 (Pubitemid 19218289)
-
(1989)
Acta Neuropathologica
, vol.78
, Issue.5
, pp. 533-542
-
-
Okeda, R.1
Matsuo, T.2
Kawahara, Y.3
Eishi, Y.4
Tamai, Y.5
Tanaka, M.6
Kamaki, M.7
Tsubota, N.8
Yamadera, H.9
-
35
-
-
0027930822
-
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis
-
Schwankhaus JD, Katz DA, Eldridge R, et al. Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch Neurol 1994;51:757-66 (Pubitemid 24242599)
-
(1994)
Archives of Neurology
, vol.51
, Issue.8
, pp. 757-766
-
-
Schwankhaus, J.D.1
Katz, D.A.2
Eldridge, R.3
Schlesinger, S.4
McFarland, H.5
-
36
-
-
0034701319
-
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
-
Coffeen CM, McKenna CE, Koeppen AH, et al. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5-31. Hum Mol Genet 2000;9:787-93 (Pubitemid 30162763)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.5
, pp. 787-793
-
-
Coffeen, C.M.1
McKenna, C.E.2
Koeppen, A.H.3
Plaster, N.M.4
Maragakis, N.5
Mihalopoulos, J.6
Schwankhaus, J.D.7
Flanigan, K.M.8
Gregg, R.G.9
Ptacek, L.J.10
Fu, Y.-H.11
-
37
-
-
60049084206
-
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
-
Sundblom J, Melberg A, Kalimo H, et al. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Am J Neuroradiol 2008;30:328-35
-
(2008)
Am J Neuroradiol
, vol.30
, pp. 328-335
-
-
Sundblom, J.1
Melberg, A.2
Kalimo, H.3
|