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Research Article

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

Angelica NordinDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden, Correspondence[email protected]

Chizuru AkimotoDivision of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan,

Anna WuolikainenDepartment of Chemistry, Umeå University, Umeå, Sweden, ;Computational Life Science Cluster (CLIC), Umeå University, Umeå, Sweden,

Helena AlstermarkDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden,

Karin ForsbergDepartment of Medical Biosciences, Umeå University, Umeå, Sweden,

Peter BaumannDepartment of Neurology, Central Hospital of Lapland, Rovaniemi, Finland,

Susana PintoInstitute of Physiology and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal,

Mamede de CarvalhoInstitute of Physiology and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal, ;Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal,

Annemarie HübersDepartment of Neurology, Ulm University, Ulm, Germany,

Frida NordinDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden,

Albert C. LudolphDepartment of Neurology, Ulm University, Ulm, Germany,

Jochen H. WeishauptDepartment of Neurology, Ulm University, Ulm, Germany,

Thomas MeyerOutpatient Department for ALS and other Motor Neuron Diseases, Charité-Universitätsmedizin Berlin, Berlin, Germany,

Torsten GrehlUniversitätsklinik Bochum, Bochum, Germany,

Kathi SchweikertDepartment of Neurology, Neuromuscular Center, Basel University Hospital, University Basel, Basel, Switzerland,

Markus WeberKantonsspital St. Gallen, Neuromuscular Disease Centre/ALS Clinic, Switzerland,

Christian BurkhardtKantonsspital St. Gallen, Neuromuscular Disease Centre/ALS Clinic, Switzerland,

Christoph NeuwirthKantonsspital St. Gallen, Neuromuscular Disease Centre/ALS Clinic, Switzerland,

Trygve HolmøyDepartment of Neurology, Akershus University Hospital, Lørenskog, Norway, ;Institute of Clinical Medicine, University of Oslo, Norway,

Mitsuya MoritaDivision of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan,

Ole-Bjørn TysnesDepartment of Neurology, Haukeland University Hospital, Bergen, Norway, ;Department of Clinical Medicine, University of Bergen, Bergen, Norway,

Michael BenatarDepartment of Neurology, University of Miami, Miami, FL, USA,

Joanne WuuDepartment of Neurology, University of Miami, Miami, FL, USA,

Dale J. LangeDepartment of Neurology, Hospital for Special Surgery, New York, USA, ;Department of Neurology, New York–Presbyterian Hospital, Weill-Cornell Medical Center, New York, USA,

Carsten BisgårdDepartment of Neurology, Lillebælt Hospital, Vejle, Denmark,

Nasrin AsgariDepartment of Neurology, Lillebælt Hospital, Vejle, Denmark, ;Department of Neurobiology, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark, and

Ilkka TarvainenDepartment of Neurology, Mikkeli Central Hospital, Finland

Thomas BrännströmDepartment of Medical Biosciences, Umeå University, Umeå, Sweden,

Peter M. AndersenDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden, ;Department of Neurology, Ulm University, Ulm, Germany, Correspondence[email protected]

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Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

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Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

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