123 related articles for article (PubMed ID: 17446330)
1. Utilization and diagnostic yield of neurogenetic testing at a tertiary care facility.
Edlefsen KL; Tait JF; Wener MH; Astion M
Clin Chem; 2007 Jun; 53(6):1016-22. PubMed ID: 17446330
[TBL] [Abstract][Full Text] [Related]
2. Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA; Cordoba M; González-Morón D; Medina N; Vega P; Dusefante CV; Arakaki T; Garretto NS; Kauffman MA
Genet Res (Camb); 2015; 97():e10. PubMed ID: 25989649
[TBL] [Abstract][Full Text] [Related]
3. A diagnostic approach for cerebral palsy in the genomic era.
Lee RW; Poretti A; Cohen JS; Levey E; Gwynn H; Johnston MV; Hoon AH; Fatemi A
Neuromolecular Med; 2014 Dec; 16(4):821-44. PubMed ID: 25280894
[TBL] [Abstract][Full Text] [Related]
4. Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders.
Raman S; Chentouf L; DeVile C; Peters MJ; Rahman S
PLoS One; 2018; 13(7):e0199756. PubMed ID: 29969469
[TBL] [Abstract][Full Text] [Related]
5. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G; Capuano A; Travaglini L; Graziola F; Stregapede F; Zanni G; Vigevano F; Bertini E; Nicita F
Int J Mol Sci; 2020 May; 21(10):. PubMed ID: 32443735
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV; Pizzamiglio C; Murphy D; Falabella M; Macken WL; Bugiardini E; Woodward CE; Labrum R; Efthymiou S; Salpietro V; Chelban V; Kaiyrzhanov R; Maroofian R; ; Amato AA; Gregory A; Hayflick SJ; ; Jonvik H; Wood N; Houlden H; Vandrovcova J; Hanna MG; Pittman A; Pitceathly RDS
Ann Neurol; 2021 Jun; 89(6):1240-1247. PubMed ID: 33704825
[TBL] [Abstract][Full Text] [Related]
7. The diagnostic pathway in complex paediatric neurology: a cost analysis.
van Nimwegen KJ; Schieving JH; Willemsen MA; Veltman JA; van der Burg S; van der Wilt GJ; Grutters JP
Eur J Paediatr Neurol; 2015 Mar; 19(2):233-9. PubMed ID: 25604808
[TBL] [Abstract][Full Text] [Related]
8. Practical approaches to neurogenetic disease.
Lynch DR; Farmer J
J Neuroophthalmol; 2002 Dec; 22(4):297-304. PubMed ID: 12464734
[TBL] [Abstract][Full Text] [Related]
9. Movement disorders in mitochondrial diseases.
Tranchant C; Anheim M
Rev Neurol (Paris); 2016; 172(8-9):524-529. PubMed ID: 27476418
[TBL] [Abstract][Full Text] [Related]
10. Genetics: Clinical exome sequencing in neurology practice.
Miyatake S; Matsumoto N
Nat Rev Neurol; 2014 Dec; 10(12):676-8. PubMed ID: 25366112
[TBL] [Abstract][Full Text] [Related]
11. An overview of neurological and neuromuscular signs in mitochondrial diseases.
Chaussenot A; Paquis-Flucklinger V
Rev Neurol (Paris); 2014 May; 170(5):323-38. PubMed ID: 24792434
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial Disorders of the Nervous System: A Review.
Set KK; Sen K; Huq AHM; Agarwal R
Clin Pediatr (Phila); 2019 Apr; 58(4):381-394. PubMed ID: 30607979
[No Abstract] [Full Text] [Related]
13. A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015.
Cohen B; Balcells C; Hotchkiss B; Aggarwal K; Karaa A
Orphanet J Rare Dis; 2018 Nov; 13(1):210. PubMed ID: 30466460
[TBL] [Abstract][Full Text] [Related]
14. Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.
Smith CO; Lipe HP; Bird TD
Arch Neurol; 2004 Jun; 61(6):875-80. PubMed ID: 15210524
[TBL] [Abstract][Full Text] [Related]
15. Diagnostic challenges of mitochondrial DNA disorders.
Wong LJ
Mitochondrion; 2007; 7(1-2):45-52. PubMed ID: 17276740
[TBL] [Abstract][Full Text] [Related]
16. Neurogenetic diseases: molecular diagnosis and therapeutic approaches.
Muller U; Graeber MB
J Mol Med (Berl); 1996 Feb; 74(2):71-84. PubMed ID: 8820402
[TBL] [Abstract][Full Text] [Related]
17. The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
Indelicato E; Nachbauer W; Karner E; Eigentler A; Wagner M; Unterberger I; Poewe W; Delazer M; Boesch S
Eur J Neurol; 2019 Jan; 26(1):66-e7. PubMed ID: 30063100
[TBL] [Abstract][Full Text] [Related]
18. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Tammimies K; Marshall CR; Walker S; Kaur G; Thiruvahindrapuram B; Lionel AC; Yuen RK; Uddin M; Roberts W; Weksberg R; Woodbury-Smith M; Zwaigenbaum L; Anagnostou E; Wang Z; Wei J; Howe JL; Gazzellone MJ; Lau L; Sung WW; Whitten K; Vardy C; Crosbie V; Tsang B; D'Abate L; Tong WW; Luscombe S; Doyle T; Carter MT; Szatmari P; Stuckless S; Merico D; Stavropoulos DJ; Scherer SW; Fernandez BA
JAMA; 2015 Sep; 314(9):895-903. PubMed ID: 26325558
[TBL] [Abstract][Full Text] [Related]
19. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Burgunder JM; Finsterer J; Szolnoki Z; Fontaine B; Baets J; Van Broeckhoven C; Di Donato S; De Jonghe P; Lynch T; Mariotti C; Schöls L; Spinazzola A; Tabrizi SJ; Tallaksen C; Zeviani M; Harbo HF; Gasser T;
Eur J Neurol; 2010 May; 17(5):641-8. PubMed ID: 20298421
[TBL] [Abstract][Full Text] [Related]
20. Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
Widgren P; Hurme A; Falck A; Keski-Filppula R; Remes AM; Moilanen J; Majamaa K; Kervinen M; Uusimaa J
Acta Ophthalmol; 2016 Feb; 94(1):83-91. PubMed ID: 26448634
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]