-
1
-
-
84880772785
-
Phenomenology and classification of dystonia: a consensus update
-
Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
-
(2013)
Mov Disord
, vol.28
, pp. 863-873
-
-
Albanese, A.1
Bhatia, K.2
Bressman, S.B.3
-
2
-
-
84880829090
-
Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes
-
Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord 2013;28:889-898.
-
(2013)
Mov Disord
, vol.28
, pp. 889-898
-
-
Fung, V.S.1
Jinnah, H.A.2
Bhatia, K.3
Vidailhet, M.4
-
3
-
-
84880845637
-
Special concerns in defining, studying, and treating dystonia in children
-
Mink JW. Special concerns in defining, studying, and treating dystonia in children. Mov Disord 2013;28:921-925.
-
(2013)
Mov Disord
, vol.28
, pp. 921-925
-
-
Mink, J.W.1
-
4
-
-
70350294580
-
Inborn errors of metabolism and motor disturbances in children
-
Garcia-Cazorla A, Wolf NI, Serrano M, et al. Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 2009;32:618-629.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 618-629
-
-
Garcia-Cazorla, A.1
Wolf, N.I.2
Serrano, M.3
-
5
-
-
84939238828
-
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm
-
van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry 2015;86:774-781.
-
(2015)
J Neurol Neurosurg Psychiatry
, vol.86
, pp. 774-781
-
-
van Egmond, M.E.1
Kuiper, A.2
Eggink, H.3
-
6
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-1929.
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
-
7
-
-
84879420805
-
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics
-
Sikkema-Raddatz B, Johansson LF, de Boer EN, et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 2013;34:1035-1042.
-
(2013)
Hum Mutat
, vol.34
, pp. 1035-1042
-
-
Sikkema-Raddatz, B.1
Johansson, L.F.2
de Boer, E.N.3
-
8
-
-
84887617035
-
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
-
Neveling K, Feenstra I, Gilissen C, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013;34:1721-1726.
-
(2013)
Hum Mutat
, vol.34
, pp. 1721-1726
-
-
Neveling, K.1
Feenstra, I.2
Gilissen, C.3
-
9
-
-
84898405421
-
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
-
Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014;16:176-182.
-
(2014)
Genet Med
, vol.16
, pp. 176-182
-
-
Shashi, V.1
McConkie-Rosell, A.2
Rosell, B.3
-
10
-
-
84962953721
-
Exome Sequencing and the Management of Neurometabolic Disorders
-
Tarailo-Graovac M, Shyr C, Ross CJ, et al. Exome Sequencing and the Management of Neurometabolic Disorders. N Engl J Med 2016;374:2246-2255.
-
(2016)
N Engl J Med
, vol.374
, pp. 2246-2255
-
-
Tarailo-Graovac, M.1
Shyr, C.2
Ross, C.J.3
-
11
-
-
84959235101
-
Genetics of movement disorders in the next-generation sequencing era
-
Olgiati S, Quadri M, Bonifati V. Genetics of movement disorders in the next-generation sequencing era. Mov Disord 2016;31:458-470.
-
(2016)
Mov Disord
, vol.31
, pp. 458-470
-
-
Olgiati, S.1
Quadri, M.2
Bonifati, V.3
-
12
-
-
84969571238
-
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
-
Trump N, McTague A, Brittain H, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet 2016;53:310-317.
-
(2016)
J Med Genet
, vol.53
, pp. 310-317
-
-
Trump, N.1
McTague, A.2
Brittain, H.3
-
13
-
-
84884533101
-
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories
-
Weiss MM, Van der Zwaag B, Jongbloed JD, et al. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat 2013;34:1313-1321.
-
(2013)
Hum Mutat
, vol.34
, pp. 1313-1321
-
-
Weiss, M.M.1
Van der Zwaag, B.2
Jongbloed, J.D.3
-
14
-
-
41949113299
-
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient
-
Seibler P, Djarmati A, Langpap B, et al. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008:7;380-381.
-
(2008)
Lancet Neurol
, vol.7
, pp. 380-381
-
-
Seibler, P.1
Djarmati, A.2
Langpap, B.3
-
15
-
-
77952995720
-
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecolamine biosynthesis
-
Willemsen MA, Verbeek MM, Kamsteeg E, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecolamine biosynthesis. Brain 2010;133:1810-1822.
-
(2010)
Brain
, vol.133
, pp. 1810-1822
-
-
Willemsen, M.A.1
Verbeek, M.M.2
Kamsteeg, E.3
-
16
-
-
84959485236
-
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism
-
Pupavac M, Tian X, Chu J, et al. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. Mol Genet Metab 2016;117:363-368.
-
(2016)
Mol Genet Metab
, vol.117
, pp. 363-368
-
-
Pupavac, M.1
Tian, X.2
Chu, J.3
-
17
-
-
84936802905
-
A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children
-
Beale S, Sanderson D, Sanniti A, Dundar Y, Boland A. A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children. Health Technol Assess 2015;19:1-90.
-
(2015)
Health Technol Assess
, vol.19
, pp. 1-90
-
-
Beale, S.1
Sanderson, D.2
Sanniti, A.3
Dundar, Y.4
Boland, A.5
-
18
-
-
84946084988
-
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a paediatric center's experience
-
Valencia CA, Husami A, Holle J, et al. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a paediatric center's experience. Front Pediatr 2015;3:67.
-
(2015)
Front Pediatr
, vol.3
, pp. 67
-
-
Valencia, C.A.1
Husami, A.2
Holle, J.3
-
19
-
-
84862786100
-
Diagnosis of dystonic syndromes – a new eight question approach
-
Bertram KL, Williams DR. Diagnosis of dystonic syndromes – a new eight question approach. Nat Rev Neurol 2012;20:275-283.
-
(2012)
Nat Rev Neurol
, vol.20
, pp. 275-283
-
-
Bertram, K.L.1
Williams, D.R.2
-
20
-
-
84939643094
-
Axons to exons: the molecular diagnosis of rare neurological diseases by next-generation sequencing
-
Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Axons to exons: the molecular diagnosis of rare neurological diseases by next-generation sequencing. Curr Neurol Neurosci Rep 2015;15:64.
-
(2015)
Curr Neurol Neurosci Rep
, vol.15
, pp. 64
-
-
Warman Chardon, J.1
Beaulieu, C.2
Hartley, T.3
Boycott, K.M.4
Dyment, D.A.5
-
21
-
-
84864360759
-
Next-generation sequencing demands next-generation phenotyping
-
Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat 2012;33:884-886.
-
(2012)
Hum Mutat
, vol.33
, pp. 884-886
-
-
Hennekam, R.C.1
Biesecker, L.G.2
-
22
-
-
84965025445
-
Launching the movement disorders society genetic mutation database (MDSGene)
-
Lill CM, Mashychev A, Hartmann C, et al. Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord 2016;31:607-609.
-
(2016)
Mov Disord
, vol.31
, pp. 607-609
-
-
Lill, C.M.1
Mashychev, A.2
Hartmann, C.3
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