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Proceedings of the National Academy of Sciences of the United States of America
|
August 21, 2003
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
Dagmar Nolte, Stephan Niemann, Ulrich Müller
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
October 24, 2007
Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
Thilo Herzfeld, Dagmar Nolte, Ulrich Müller
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 7, 2006
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family
Dagmar Nolte, Melanie Landendinger, Eberhard Schmitt, et al.
Journal of Alzheimer'S Disease : JAD
|
May 22, 2014
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family
Ulrich Müller, Pia Winter, Claus Bolender, et al.
Human Molecular Genetics
|
November 28, 2012
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism
Thilo Herzfeld, Dagmar Nolte, Maria Grznarova, et al.
Journal of Cellular and Molecular Medicine
|
August 24, 2024
A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22
Marlen Colleen Reis, Laura Mandler, Jun-Suk Kang, et al.
Journal of Neurology
|
May 26, 2021
Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia
Dagmar Nolte, Jun-Suk Kang, Amrei Hofmann, et al.
Journal of Molecular Neuroscience : MN
|
December 3, 2013
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28
Anna Mareike Löbbe, Jun-Suk Kang, Rüdiger Hilker, et al.
Frontiers in Molecular Neuroscience
|
May 2, 2022
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in <i>STUB1</i> and Exacerbated by <i>TBP</i> Repeat Expansions
Marlen Colleen Reis, Julia Patrun, Nibal Ackl, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of <i>KCNC3</i>
Marlen Colleen Reis, Frauke Härtel, Antje Maria Richter, et al.
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Search research articles
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Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Proceedings of the National Academy of Sciences of the United States of America
|
August 21, 2003
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
Dagmar Nolte, Stephan Niemann, Ulrich Müller
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
October 24, 2007
Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
Thilo Herzfeld, Dagmar Nolte, Ulrich Müller
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 7, 2006
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family
Dagmar Nolte, Melanie Landendinger, Eberhard Schmitt, et al.
Journal of Alzheimer'S Disease : JAD
|
May 22, 2014
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family
Ulrich Müller, Pia Winter, Claus Bolender, et al.
Human Molecular Genetics
|
November 28, 2012
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism
Thilo Herzfeld, Dagmar Nolte, Maria Grznarova, et al.
Journal of Cellular and Molecular Medicine
|
August 24, 2024
A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22
Marlen Colleen Reis, Laura Mandler, Jun-Suk Kang, et al.
Journal of Neurology
|
May 26, 2021
Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia
Dagmar Nolte, Jun-Suk Kang, Amrei Hofmann, et al.
Journal of Molecular Neuroscience : MN
|
December 3, 2013
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28
Anna Mareike Löbbe, Jun-Suk Kang, Rüdiger Hilker, et al.
Frontiers in Molecular Neuroscience
|
May 2, 2022
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in <i>STUB1</i> and Exacerbated by <i>TBP</i> Repeat Expansions
Marlen Colleen Reis, Julia Patrun, Nibal Ackl, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of <i>KCNC3</i>
Marlen Colleen Reis, Frauke Härtel, Antje Maria Richter, et al.
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