SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Carina Fischer; Slave Trajanoski; Lea Papic; Christian Windpassinger; G Bernert; M Freilinger; Maria Schabhüttl; M Arslan-Kirchner; P Javaher-Haghighi; Barbara Plecko; J Senderek; C Rauscher; WN Löscher; Thomas Pieber; AR Janecke; Michaela Auer-Grumbach

doi:10.1007/s00415-011-6213-8

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Carina Fischer (First author)
, Slave Trajanoski (First author)
, Lea Papic
, Christian Windpassinger
, G Bernert
, M Freilinger
, Maria Schabhüttl
, M Arslan-Kirchner
, P Javaher-Haghighi
, Barbara Plecko
, J Senderek
, C Rauscher
, WN Löscher
, Thomas Pieber
, AR Janecke
, Michaela Auer-Grumbach^* (Last author)

^*Corresponding author for this work

Research output: Contribution to journal › Research article

17 Citations (Web of Science)

Original language	English
Journal	Journal of Neurology
DOIs	https://doi.org/10.1007/s00415-011-6213-8
Publication status	Published - 2012

Branches of science

302 Clinical Medicine
305 Other Human Medicine, Health Sciences
301 Medical-Theoretical Sciences, Pharmacy

Research Fields

Neuroscience

DOI

10.1007/s00415-011-6213-8

Links

Cite this

Fischer, C., Trajanoski, S., Papic, L., Windpassinger, C., Bernert, G., Freilinger, M., Schabhüttl, M., Arslan-Kirchner, M., Javaher-Haghighi, P., Plecko, B., Senderek, J., Rauscher, C., Löscher, WN., Pieber, T., Janecke, AR., & Auer-Grumbach, M. (2012). SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. Journal of Neurology. https://doi.org/10.1007/s00415-011-6213-8

@article{831bb9c6f2f5419680346b77540a039f,

title = "SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.",

author = "Carina Fischer and Slave Trajanoski and Lea Papic and Christian Windpassinger and G Bernert and M Freilinger and Maria Schabh{\"u}ttl and M Arslan-Kirchner and P Javaher-Haghighi and Barbara Plecko and J Senderek and C Rauscher and WN L{\"o}scher and Thomas Pieber and AR Janecke and Michaela Auer-Grumbach",

year = "2012",

doi = "10.1007/s00415-011-6213-8",

language = "English",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

Fischer, C, Trajanoski, S , Papic, L , Windpassinger, C, Bernert, G, Freilinger, M, Schabhüttl, M, Arslan-Kirchner, M, Javaher-Haghighi, P, Plecko, B, Senderek, J, Rauscher, C, Löscher, WN, Pieber, T, Janecke, AR & Auer-Grumbach, M 2012, 'SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.', Journal of Neurology. https://doi.org/10.1007/s00415-011-6213-8

TY - JOUR

T1 - SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

AU - Papic, Lea

AU - Windpassinger, Christian

AU - Bernert, G

AU - Freilinger, M

AU - Schabhüttl, Maria

AU - Arslan-Kirchner, M

AU - Javaher-Haghighi, P

AU - Plecko, Barbara

AU - Senderek, J

AU - Rauscher, C

AU - Löscher, WN

AU - Pieber, Thomas

AU - Janecke, AR

A2 - Fischer, Carina

A2 - Trajanoski, Slave

A2 - Auer-Grumbach, Michaela

PY - 2012

Y1 - 2012

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000301183500015

UR - https://pubmed.ncbi.nlm.nih.gov/21892769

UR - https://pmc.ncbi.nlm.nih.gov/articles/PMC3296015

U2 - 10.1007/s00415-011-6213-8

DO - 10.1007/s00415-011-6213-8

M3 - Research article

C2 - 21892769

SN - 0340-5354

JO - Journal of Neurology

JF - Journal of Neurology

ER -