Search Results - "Alstermark, Helena"

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study by Nordin, Angelica, Akimoto, Chizuru, Wuolikainen, Anna, Alstermark, Helena, Forsberg, Karin, Baumann, Peter, Pinto, Susana, de Carvalho, Mamede, Hübers, Annemarie, Nordin, Frida, Ludolph, Albert C., Weishaupt, Jochen H., Meyer, Thomas, Grehl, Torsten, Schweikert, Kathi, Weber, Markus, Burkhardt, Christian, Neuwirth, Christoph, Holmøy, Trygve, Morita, Mitsuya, Tysnes, Ole-Bjørn, Benatar, Michael, Wuu, Joanne, Lange, Dale J., Bisgård, Carsten, Asgari, Nasrin, Tarvainen, Ilkka, Brännström, Thomas, Andersen, Peter M.

“…A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations…”
Get full text

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions by Roos, Anna-Karin, Stenvall, Erica, Kockum, Emmy Skelton, Grönlund, Kornelia Åman, Alstermark, Helena, Wuolikainen, Anna, Andersen, Peter M, Nordin, Angelica, Forsberg, Karin M E

“…Short tandem repeat expansions in the human genome are overrepresented in a variety of neurological disorders. It was recently shown that huntingtin (HTT)…”
Get full text

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD by Nordin, Angelica, Akimoto, Chizuru, Wuolikainen, Anna, Alstermark, Helena, Jonsson, Pär, Birve, Anna, Marklund, Stefan L, Graffmo, Karin S, Forsberg, Karin, Brännström, Thomas, Andersen, Peter M

“…A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among…”
Get full text

Commissural axonal corridors instruct neuronal migration in the mouse spinal cord by Laumonnerie, Christophe, Tong, Yong Guang, Alstermark, Helena, Wilson, Sara I.

“…Unravelling how neurons are guided during vertebrate embryonic development has wide implications for understanding the assembly of the nervous system. During…”
Get full text

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories by Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian

“…The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia…”
Get more information

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden by Akimoto, Chizuru, Forsgren, Lars, Linder, Jan, Birve, Anna, Backlund, Irene, Andersson, Jörgen, Nilsson, Ann-Charloth, Alstermark, Helena, Andersen, Peter M.

“…An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal…”
Get full text