Presentation is loading. Please wait.

Presentation is loading. Please wait.

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,

Published byCaiden Wilbourne Modified over 9 years ago

Similar presentations

Presentation on theme: "Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,"— Presentation transcript:

1 Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H. Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J. Vilchez, Jaume Colomer, Cecilia Jimenez Mallebrera, Andres Nascimento, Shahriar Nafissi, Ariana Kariminejad, Yalda Nilipour, Bita Bozorgmehr, Hossein Najmabadi, Carmelo Rodolico, Jörn P. Sieb, Ortrud K. Steinlein, Beate Schlotter, Benedikt Schoser, Janbernd Kirschner, Ralf Herrmann, Thomas Voit, Anders Oldfors, Christopher Lindbergh, Andoni Urtizberea, Maja von der Hagen, Angela Hübner, Jacqueline Palace, Kate Bushby, Volker Straub, David Beeson, Angela Abicht, Hanns Lochmüller The American Journal of Human Genetics Volume 88, Issue 2, Pages 162-172 (February 2011) DOI: 10.1016/j.ajhg.2011.01.008 Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Download ppt "Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,"

Similar presentations

Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.

Mutations in FEZF1 Cause Kallmann Syndrome L. Damla Kotan, B. Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih.
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,
Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling,

Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling,
Creep Function of a Single Living Cell Nicolas Desprat, Alain Richert, Jacqueline Simeon, Atef Asnacios Biophysical Journal Volume 88, Issue 3, Pages 2224-2233.

Creep Function of a Single Living Cell Nicolas Desprat, Alain Richert, Jacqueline Simeon, Atef Asnacios Biophysical Journal Volume 88, Issue 3, Pages
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Distribution of Human Embryonic Stem Cell Lines: Who, When, and Where Jennifer B. McCormick, Jason Owen-Smith, Christopher Thomas Scott Cell Stem Cell.

Distribution of Human Embryonic Stem Cell Lines: Who, When, and Where Jennifer B. McCormick, Jason Owen-Smith, Christopher Thomas Scott Cell Stem Cell.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages 1263-1272.

X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
The Nuclear Pore Complex Mystery and Anomalous Diffusion in Reversible Gels Thomas Bickel, Robijn Bruinsma Biophysical Journal Volume 83, Issue 6, Pages.

The Nuclear Pore Complex Mystery and Anomalous Diffusion in Reversible Gels Thomas Bickel, Robijn Bruinsma Biophysical Journal Volume 83, Issue 6, Pages.
A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye Darryl Y. Nishimura, Charles.

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye Darryl Y. Nishimura, Charles.
Contrast Inversion in the Epifluorescence of Cholesterol-Phospholipid Monolayers T.M. Okonogi, H.M. McConnell Biophysical Journal Volume 86, Issue 2, Pages.

Contrast Inversion in the Epifluorescence of Cholesterol-Phospholipid Monolayers T.M. Okonogi, H.M. McConnell Biophysical Journal Volume 86, Issue 2, Pages.

Similar presentations

Ads by Google