Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain

Volumn 136, Issue 10, 2013, Pages 3106-3118

  Németh, Andrea H ^a,b,c   Kwasniewska, Alexandra C ^a,c   Lise, Stefano ^c   Parolin Schnekenberg, Ricardo ^c,d   Becker, Esther B E ^e   Bera, Katarzyna D ^e   Shanks, Morag E ^c   Gregory, Lorna ^c   Buck, David ^c   Zameel Cader, M ^a   Talbot, Kevin ^a   De Silva, Rajith ^f   Fletcher, Nicholas ^g   Hastings, Rob ^h   Jayawant, Sandeep ⁱ   Morrison, Patrick J ^j   Worth, Paul ^k   Taylor, Malcolm ^l   Tolmie, John ^m   O'Regan, Mary ⁿ   Valentine, Ruth ^o   Packham, Emily ⁱ   Evans, Julie ⁱ   Seller, Anneke ⁱ   Ragoussis, Jiannis ^c,p   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d POSITIVO UNIVERSITY   (Brazil)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f QUEEN S HOSPITAL   (United Kingdom)

^g THE WALTON CENTRE NHS FOUNDATION TRUST   (United Kingdom)

^h ST MICHAEL'S HOSPITAL   (United Kingdom)

ⁱ OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^j QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^k NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^l UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^m SOUTHERN GENERAL HOSPITAL   (United Kingdom)

ⁿ ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^o Thames Valley Dementia and Neurodegenerative Diseases Research Network (DeNDRoN)   (United Kingdom)

^p MCGILL UNIVERSITY   (Canada)

more..

Author keywords

ataxia; autosomal dominant cerebellar ataxia; autosomal recessive cerebellar ataxia; diagnosis; genetics

Indexed keywords

ATAXIN 1; ATAXIN 2; ATAXIN 3; ATAXIN 6; ATAXIN 7; UNCLASSIFIED DRUG;

ADOLESCENT DISEASE; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; APRAXIA; ARTICLE; ATAXIA; BIOINFORMATICS; CEREBRAL PALSY; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL PRACTICE; CONTROLLED STUDY; DELAYED DIAGNOSIS; EXON; EYE MOVEMENT DISORDER; FAMILY HISTORY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LEARNING DISORDER; MENTAL DEFICIENCY; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; NEXT GENERATION SEQUENCING; NONHUMAN; ONSET AGE; PATHOGENICITY; PHENOTYPE; PILOT STUDY; PRIORITY JOURNAL; RAT; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; RECESSIVE GENE;

AGE OF ONSET; ATAXIA; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION;

EID: 84884822376     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt236     Document Type: Article

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