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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

Campos, Berta ; Balmaña, Judith ; Gardenyes, Josep ; Valenzuela, Irene ; Abad, Oscar ; Fàbregas, Pere ; Volpini, Víctor ; Díez, Orland

Breast cancer research and treatment, 2013-06, Vol.139 (2), p.597-602 [Periódico revisado por pares]

Boston: Springer US

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2
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Ishiura, Hiroyuki ; Shibata, Shota ; Yoshimura, Jun ; Suzuki, Yuta ; Qu, Wei ; Doi, Koichiro ; Almansour, M Asem ; Kikuchi, Junko Kanda ; Taira, Makiko ; Mitsui, Jun ; Takahashi, Yuji ; Ichikawa, Yaeko ; Mano, Tatsuo ; Iwata, Atsushi ; Harigaya, Yasuo ; Matsukawa, Miho Kawabe ; Matsukawa, Takashi ; Tanaka, Masaki ; Shirota, Yuichiro ; Ohtomo, Ryo ; Kowa, Hisatomo ; Date, Hidetoshi ; Mitsue, Aki ; Hatsuta, Hiroyuki ; Morimoto, Satoru ; Murayama, Shigeo ; Shiio, Yasushi ; Saito, Yuko ; Mitsutake, Akihiko ; Kawai, Mizuho ; Sasaki, Takuya ; Sugiyama, Yusuke ; Hamada, Masashi ; Ohtomo, Gaku ; Terao, Yasuo ; Nakazato, Yoshihiko ; Takeda, Akitoshi ; Sakiyama, Yoshio ; Umeda-Kameyama, Yumi ; Shinmi, Jun ; Ogata, Katsuhisa ; Kohno, Yutaka ; Lim, Shen-Yang ; Tan, Ai Huey ; Shimizu, Jun ; Goto, Jun ; Nishino, Ichizo ; Toda, Tatsushi ; Morishita, Shinichi ; Tsuji, Shoji

Nature genetics, 2019-08, Vol.51 (8), p.1222-1232 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response
TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response
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TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

Wang, Peng ; Deng, Jianwen ; Dong, Jie ; Liu, Jianghong ; Bigio, Eileen H ; Mesulam, Marsel ; Wang, Tao ; Sun, Lei ; Wang, Li ; Lee, Alan Yueh-Luen ; McGee, Warren A ; Chen, Xiaoping ; Fushimi, Kazuo ; Zhu, Li ; Wu, Jane Y Hamilton, Bruce A.

PLoS genetics, 2019-05, Vol.15 (5), p.e1007947-e1007947 [Periódico revisado por pares]

United States: Public Library of Science

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4
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
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Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Andersen, Peter M ; Al-Chalabi, Ammar

Nature reviews. Neurology, 2011-11, Vol.7 (11), p.603-615 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Neurogenetics, Part II
Neurogenetics, Part II
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Neurogenetics, Part II

Geschwind, Daniel H ; Paulson, Henry L ; Klein, Christine

San Diego: Elsevier 2018

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Neurogenetics, Part I
Neurogenetics, Part I
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Neurogenetics, Part I

Geschwind, Daniel H ; Paulson, Henry L ; Klein, Christine

San Diego: Elsevier 2018

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7
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Lanoiselée, Hélène-Marie ; Nicolas, Gaël ; Wallon, David ; Rovelet-Lecrux, Anne ; Lacour, Morgane ; Rousseau, Stéphane ; Richard, Anne-Claire ; Pasquier, Florence ; Rollin-Sillaire, Adeline ; Martinaud, Olivier ; Quillard-Muraine, Muriel ; de la Sayette, Vincent ; Boutoleau-Bretonniere, Claire ; Etcharry-Bouyx, Frédérique ; Chauviré, Valérie ; Sarazin, Marie ; le Ber, Isabelle ; Epelbaum, Stéphane ; Jonveaux, Thérèse ; Rouaud, Olivier ; Ceccaldi, Mathieu ; Félician, Olivier ; Godefroy, Olivier ; Formaglio, Maite ; Croisile, Bernard ; Auriacombe, Sophie ; Chamard, Ludivine ; Vincent, Jean-Louis ; Sauvée, Mathilde ; Marelli-Tosi, Cecilia ; Gabelle, Audrey ; Ozsancak, Canan ; Pariente, Jérémie ; Paquet, Claire ; Hannequin, Didier ; Campion, Dominique Miller, Bruce L

PLoS medicine, 2017-03, Vol.14 (3), p.e1002270-e1002270 [Periódico revisado por pares]

United States: Public Library of Science

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8
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
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Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

Payami, Haydeh ; Hamza, Taye H ; Zabetian, Cyrus P ; Tenesa, Albert ; Laederach, Alain ; Montimurro, Jennifer ; Yearout, Dora ; Kay, Denise M ; Doheny, Kimberly F ; Paschall, Justin ; Pugh, Elizabeth ; Kusel, Victoria I ; Collura, Randall ; Roberts, John ; Griffith, Alida ; Samii, Ali ; Scott, William K ; Nutt, John ; Factor, Stewart A

Nature genetics, 2010-09, Vol.42 (9), p.781-785 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Müller, Ulrich ; Schellenberg, Gerard D ; Höglinger, Günter U ; Melhem, Nadine M ; Dickson, Dennis W ; Sleiman, Patrick M A ; Wang, Li-San ; Klei, Lambertus ; Rademakers, Rosa ; de Silva, Rohan ; Litvan, Irene ; Riley, David E ; van Swieten, John C ; Heutink, Peter ; Wszolek, Zbigniew K ; Uitti, Ryan J ; Vandrovcova, Jana ; Hurtig, Howard I ; Gross, Rachel G ; Maetzler, Walter ; Goldwurm, Stefano ; Tolosa, Eduardo ; Borroni, Barbara ; Pastor, Pau ; Cantwell, Laura B ; Han, Mi Ryung ; Dillman, Allissa ; van der Brug, Marcel P ; Gibbs, J Raphael ; Cookson, Mark R ; Hernandez, Dena G ; Singleton, Andrew B ; Farrer, Matthew J ; Yu, Chang-En ; Golbe, Lawrence I ; Revesz, Tamas ; Hardy, John ; Lees, Andrew J ; Devlin, Bernie ; Hakonarson, Hakon

Nature genetics, 2011-07, Vol.43 (7), p.699-705 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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10
An epigenetic blockade of cognitive functions in the neurodegenerating brain
An epigenetic blockade of cognitive functions in the neurodegenerating brain
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An epigenetic blockade of cognitive functions in the neurodegenerating brain

GRÄFF, Johannes ; REI, Damien ; SI, Susan C ; SAMIEI, Alireza ; JOSEPH, Nadine ; HAGGARTY, Stephen J ; DELALLE, Ivana ; TSAI, Li-Huei ; GUAN, Ji-Song ; WANG, Wen-Yuan ; SEO, Jinsoo ; HENNIG, Krista M ; NIELAND, Thomas J. F ; FASS, Daniel M ; KAO, Patricia F ; KAHN, Martin

Nature (London), 2012-03, Vol.483 (7388), p.222-226 [Periódico revisado por pares]

London: Nature Publishing Group

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