Number	First author	Year	Journal	Notes
Language restrictions
1	Tomi H	1986	Clinical Neurology	Article in Japanese
2	Mitake S	1989	Rinsho Shinkeigaku	Article in Japanese
3	Yoneyama S	1992	Rinsho Shinkeigaku	Article in Japanese
4	Haranaka M	2000	No To Hattatsu	Article in Japanese
5	Iwata T	2009	Rinsho Shinkeigaku	Article in Japanese
Conference abstracts
1	Dhaenens C	2009	Medizinische Genetik
2	Gourdon G	2009	Medizinische Genetik
3	Kang Y	2009	Medizinische Genetik
4	Kuru S	2010	Neuropathology
5	Saito Y	2010	Neuropathology
6	Caillet‐Boudin M	2011	Alzheimer's and Dementia
7	Ikeda K	2011	Neuropathology
8	Jinnai K	2011	Neuropathology
9	Kuru S	2011	Neuropathology
10	Matsuda M	2012	Neuropathology
11	Imanishi A	2013	Sleep
12	Komene T	2013	Neuropathology
13	Oya Y	2013	Neuropathology
14	Servais L	2015	Neuromuscular Disorders
15	Iwasaki Y	2016	Clinical Neurology
16	Sano T	2016	Clinical Neurology
17	Shioya A	2016	Clinical Neurology
Cell/tissue culture studies
1	Hernandez‐Hernandez O	2006	Journal of Neuroscience Research
2	Ghanem D	2009	FEBS Letters
3	Marteyn A	2011	Cell Stem Cell
4	Velazquez‐Bernardinho P	2012	Molecular Biology Reports
5	Reddy K	2014	Nucleic Acids Research
Animal studies
1	Balasubramanyam A	1998	Journal of Comparative Neurology
2	Seznec H	2001	Human Molecular Genetics
3	Sato S	2002	Human Molecular Genetics
4	Westerlaken J	2003	Brain Research
5	Garcia‐Lopez A	2008	PLoS One
6	Oude Ophuis R	2009	Muscle Nerve
7	Charizanis K	2012	Neuron
8	Wang E	2012	Cell
9	Hernandez‐Hernandez O	2013	Rare Diseases
10	Poulos M	2013	Human Molecular Genetics
11	Choi J	2016	Scientific Reports
12	Wang P	2017	Human Molecular Genetics
Genetic studies
1	Ishii S	1996	Human Genetics
2	Gennarelli M	1999	Neuromuscular Disorders
3	Korade‐Mirnics Z	1999	Human Molecular Genetics
4	Sergeant N	2001	Human Molecular Genetics
5	Leroy O	2006	Biochimica et Biophysica Acta
6	Leroy O	2006	Journal Neuroscience Research
7	Dhaenens C	2008	Experimental Neurology
8	Axford M	2011	Journal of Medical Genetics
9	Lopez Castel A	2011	Human Molecular Genetics
10	Suenaga K	2012	PLoS One
11	Axford M	2013	PLoS Genetics
12	Hernandez‐Hernandez O	2013	Brain
13	Goodwin M	2015	Cell Reports
CSF studies
1	Hirase T	1984	Brain and Development
2	Martinez‐Rodriguez J	2003	Sleep
3	Ciafaloni E	2008	Neurology
4	Winblad S	2008	European Journal of Neurology
Double reporting
1	Ono S	1987	Journal of the Neurological Sciences
2	Yoshimura N	1990	Clinical Neuropathology
Significant neurological comorbidities
1	Kobayashi S	2005	Journal of the Neurological Sciences
No patient tissue used
1	Gennarelli M	1995	Biochemical and Biophysical Research Communications
2	Whiting E	1995	Human Molecular Genetics
3	Wang J	2007	Journal of Neurochemistry
4	Cleary J	2010	Nature Structural & Molecular Biology