-
1
-
-
84902275072
-
A practical approach to diagnosing adult onset leukodystrophies
-
Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ, et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry 2014; 85: 770-81.
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, pp. 770-781
-
-
Ahmed, R.M.1
Murphy, E.2
Davagnanam, I.3
Parton, M.4
Schott, J.M.5
Mummery, C.J.6
-
2
-
-
84992346878
-
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
-
Bugiani M, Kevelam SH, Bakels HS, Waisfisz Q, Ceuterick-de Groote C, Niessen HW, et al. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Neurology 2016; 87: 1777-86.
-
(2016)
Neurology
, vol.87
, pp. 1777-1786
-
-
Bugiani, M.1
Kevelam, S.H.2
Bakels, H.S.3
Waisfisz, Q.4
Ceuterick-De Groote, C.5
Niessen, H.W.6
-
3
-
-
84903955232
-
Novel (ovario) leukodystrophy related to AARS2 mutations
-
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 2014; 82: 2063-71.
-
(2014)
Neurology
, vol.82
, pp. 2063-2071
-
-
Dallabona, C.1
Diodato, D.2
Kevelam, S.H.3
Haack, T.B.4
Wong, L.J.5
Salomons, G.S.6
-
4
-
-
33746890542
-
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease
-
Hurst S, Garbern J, Trepanier A, Gow A. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. Genet Med 2006; 8: 371-8.
-
(2006)
Genet Med
, vol.8
, pp. 371-378
-
-
Hurst, S.1
Garbern, J.2
Trepanier, A.3
Gow, A.4
-
5
-
-
85011537396
-
Analysis of mutations in AARS2 in a series of CSF1R-Negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
-
Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, et al. Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. JAMA Neurol 2016; 114: 494-500.
-
(2016)
JAMA Neurol
, vol.114
, pp. 494-500
-
-
Lynch, D.S.1
Zhang, W.J.2
Lakshmanan, R.3
Kinsella, J.A.4
Uzun, G.A.5
Karbay, M.6
-
6
-
-
84926409140
-
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
-
Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab 2015; 114: 501-15.
-
(2015)
Mol Genet Metab
, vol.114
, pp. 501-515
-
-
Parikh, S.1
Bernard, G.2
Leventer, R.J.3
Van Der Knaap, M.S.4
Van Hove, J.5
Pizzino, A.6
-
7
-
-
84856273853
-
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
-
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, 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
Rutherford, N.J.4
Finch, N.5
Soto-Ortolaza, A.6
-
8
-
-
84947022349
-
Targeted leukodystrophy diagnosis based on charges and yields for testing
-
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A 2015a; 167A: 2541-3.
-
(2015)
Am J Med Genet A
, vol.167 A
, pp. 2541-2543
-
-
Richards, J.1
Korgenski, E.K.2
Taft, R.J.3
Vanderver, A.4
Bonkowsky, J.L.5
-
9
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015b; 17: 405-23.
-
(2015)
Genet Med
, vol.17
, pp. 405-423
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
-
10
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39: 534-9.
-
(2007)
Nat Genet
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
Van Der Klok, T.2
Van Andel, R.J.3
Van Berkel Cgm4
Sissler, M.5
Smet, J.6
-
11
-
-
84926245563
-
Case definition and classification of leukodystrophies and leukoencephalopathies
-
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, et al. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114: 494-500.
-
(2015)
Mol Genet Metab
, vol.114
, pp. 494-500
-
-
Vanderver, A.1
Prust, M.2
Tonduti, D.3
Mochel, F.4
Hussey, H.M.5
Helman, G.6
-
12
-
-
84966602646
-
Whole exome sequencing in patients with white matter abnormalities
-
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, et al. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol 2016; 79: 1031-7
-
(2016)
Ann Neurol
, vol.79
, pp. 1031-1037
-
-
Vanderver, A.1
Simons, C.2
Helman, G.3
Crawford, J.4
Wolf, N.I.5
Bernard, G.6
-
13
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
|