Búsqueda | Biblioteca Virtual en Salud Fronteriza

1.

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A; Sumner, Charlotte J; Roda, Ricardo H; Chaudhry, Vinay; Lloyd, Thomas E; Crawford, Thomas O; Subramony, S H; Oh, Shin J; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y; Fischbeck, Kenneth H; Mankodi, Ami.

J Neurol Neurosurg Psychiatry ; 92(11): 1186-1196, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34103343

2.

Diabetes and Cognitive Impairment.

Zilliox, Lindsay A; Chadrasekaran, Krish; Kwan, Justin Y; Russell, James W.

Curr Diab Rep ; 16(9): 87, 2016 09.

Artículo en Inglés | MEDLINE | ID: mdl-27491830

3.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Markello, Thomas; Chen, Dong; Kwan, Justin Y; Horkayne-Szakaly, Iren; Morrison, Alan; Simakova, Olga; Maric, Irina; Lozier, Jay; Cullinane, Andrew R; Kilo, Tatjana; Meister, Lynn; Pakzad, Kourosh; Bone, William; Chainani, Sanjay; Lee, Elizabeth; Links, Amanda; Boerkoel, Cornelius; Fischer, Roxanne; Toro, Camilo; White, James G; Gahl, William A; Gunay-Aygun, Meral.

Mol Genet Metab ; 114(3): 474-82, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25577287

4.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.

Seddighi, Sahba; Qi, Yue A; Brown, Anna-Leigh; Wilkins, Oscar G; Bereda, Colleen; Belair, Cedric; Zhang, Yong-Jie; Prudencio, Mercedes; Keuss, Matthew J; Khandeshi, Aditya; Pickles, Sarah; Kargbo-Hill, Sarah E; Hawrot, James; Ramos, Daniel M; Yuan, Hebao; Roberts, Jessica; Sacramento, Erika Kelmer; Shah, Syed I; Nalls, Mike A; Colón-Mercado, Jennifer M; Reyes, Joel F; Ryan, Veronica H; Nelson, Matthew P; Cook, Casey N; Li, Ziyi; Screven, Laurel; Kwan, Justin Y; Mehta, Puja R; Zanovello, Matteo; Hallegger, Martina; Shantaraman, Anantharaman; Ping, Lingyan; Koike, Yuka; Oskarsson, Björn; Staff, Nathan P; Duong, Duc M; Ahmed, Aisha; Secrier, Maria; Ule, Jernej; Jacobson, Steven; Reich, Daniel S; Rohrer, Jonathan D; Malaspina, Andrea; Dickson, Dennis W; Glass, Jonathan D; Ori, Alessandro; Seyfried, Nicholas T; Maragkakis, Manolis; Petrucelli, Leonard; Fratta, Pietro.

Sci Transl Med ; 16(734): eadg7162, 2024 02 14.

Artículo en Inglés | MEDLINE | ID: mdl-38277467

5.

Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.

Vandebergh, Marijne; Ramos, Eliana Marisa; Corriveau-Lecavalier, Nick; Ramanan, Vijay K; Kornak, John; Mester, Carly; Kolander, Tyler; Brushaber, Danielle; Staffaroni, Adam M; Geschwind, Daniel; Wolf, Amy; Kantarci, Kejal; Gendron, Tania F; Petrucelli, Leonard; Van den Broeck, Marleen; Wynants, Sarah; Baker, Matthew C; Borrego-Écija, Sergi; Appleby, Brian; Barmada, Sami; Bozoki, Andrea; Clark, David; Darby, R Ryan; Dickerson, Bradford C; Domoto-Reilly, Kimiko; Fields, Julie A; Galasko, Douglas R; Ghoshal, Nupur; Graff-Radford, Neill; Grant, Ian M; Honig, Lawrence S; Hsiung, Ging-Yuek Robin; Huey, Edward D; Irwin, David; Knopman, David S; Kwan, Justin Y; Léger, Gabriel C; Litvan, Irene; Masdeu, Joseph C; Mendez, Mario F; Onyike, Chiadi; Pascual, Belen; Pressman, Peter; Ritter, Aaron; Roberson, Erik D; Snyder, Allison; Sullivan, Anna Campbell; Tartaglia, M Carmela; Wint, Dylan; Heuer, Hilary W.

medRxiv ; 2024 Apr 05.

Artículo en Inglés | MEDLINE | ID: mdl-38633784

6.

Chronic myopathy due to immunoglobulin light chain amyloidosis.

Manoli, Irini; Kwan, Justin Y; Wang, Qian; Rushing, Elisabeth J; Tsokos, Maria; Arai, Andrew E; Burch, Warner M; Dispenzieri, Angela; McPherron, Alexandra C; Gahl, William A.

Mol Genet Metab ; 108(4): 249-54, 2013 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23465863

7.

Cognitive determinants of decisional capacity in neurodegenerative disorders.

Portley, Makayla; Sherer, Carolyn; Wu, Tianxia; Farren, Jennifer; Danielian, Laura E; Scholz, Sonja W; Traynor, Bryan J; Ward, Michael E; Haselhuhn, Taryn; Snyder, Allison; Kwan, Justin Y.

Ann Clin Transl Neurol ; 10(10): 1816-1823, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37545108

8.

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.

Snyder, Allison; Ryan, Veronica H; Hawrot, James; Lawton, Sydney; Ramos, Daniel M; Qi, Y Andy; Johnson, Kory; Reed, Xylena; Johnson, Nicholas L; Kollasch, Aaron W; Duffy, Megan; VandeVrede, Lawren; Cochran, J Nicholas; Miller, Bruce L; Toro, Camilo; Bielekova, Bibiana; Yokoyama, Jennifer S; Marks, Debora S; Kwan, Justin Y; Cookson, Mark R; Ward, Michael E.

Res Sq ; 2023 Oct 19.

Artículo en Inglés | MEDLINE | ID: mdl-37886540

9.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.

Seddighi, Sahba; Qi, Yue A; Brown, Anna-Leigh; Wilkins, Oscar G; Bereda, Colleen; Belair, Cedric; Zhang, Yongjie; Prudencio, Mercedes; Keuss, Matthew J; Khandeshi, Aditya; Pickles, Sarah; Hill, Sarah E; Hawrot, James; Ramos, Daniel M; Yuan, Hebao; Roberts, Jessica; Kelmer Sacramento, Erika; Shah, Syed I; Nalls, Mike A; Colon-Mercado, Jenn; Reyes, Joel F; Ryan, Veronica H; Nelson, Matthew P; Cook, Casey; Li, Ziyi; Screven, Laurel; Kwan, Justin Y; Shantaraman, Anantharaman; Ping, Lingyan; Koike, Yuka; Oskarsson, Björn; Staff, Nathan; Duong, Duc M; Ahmed, Aisha; Secrier, Maria; Ule, Jerneg; Jacobson, Steven; Rohrer, Jonathan; Malaspina, Andrea; Glass, Jonathan D; Ori, Alessandro; Seyfried, Nicholas T; Maragkakis, Manolis; Petrucelli, Leonard; Fratta, Pietro; Ward, Michael E.

bioRxiv ; 2023 Jan 23.

Artículo en Inglés | MEDLINE | ID: mdl-36747793

10.

Association of Tef polymorphism with depression in Parkinson disease.

Hua, Ping; Liu, Weiguo; Kuo, Sheng-Han; Zhao, Yanyan; Chen, Ling; Zhang, Ning; Wang, Chun; Guo, Suwan; Wang, Li; Xiao, Hong; Kwan, Justin Y; Wu, Tianxia.

Mov Disord ; 27(13): 1694-7, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23138696

11.

White matter alterations differ in primary lateral sclerosis and amyotrophic lateral sclerosis.

Iwata, Nobue K; Kwan, Justin Y; Danielian, Laura E; Butman, John A; Tovar-Moll, Fernanda; Bayat, Elham; Floeter, Mary Kay.

Brain ; 134(Pt 9): 2642-55, 2011 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-21798965

12.

Evaluation and Management of Dysphagia in Amyotrophic Lateral Sclerosis: A Survey of Speech-Language Pathologists' Clinical Practice.

Epps, Denise; Kwan, Justin Y; Russell, James W; Thomas, Talisa; Diaz-Abad, Montserrat.

J Clin Neuromuscul Dis ; 21(3): 135-143, 2020 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-32073459

13.

Camptocormia as a presentation of generalized inflammatory myopathy.

Kuo, Sheng-Han; Vullaganti, Mithila; Jimenez-Shahed, Joohi; Kwan, Justin Y.

Muscle Nerve ; 40(6): 1059-63, 2009 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-19750541

14.

Poor Sleep Quality in Patients With Amyotrophic Lateral Sclerosis at the Time of Diagnosis.

Diaz-Abad, Montserrat; Buczyner, Jennifer R; Venza, Brigit R; Scharf, Steven M; Kwan, Justin Y; Lubinski, Brooke; Russell, James W.

J Clin Neuromuscul Dis ; 20(2): 60-68, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-30439751

15.

Paraproteinemic neuropathy.

Kwan, Justin Y.

Neurol Clin ; 25(1): 47-69, 2007 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-17324720

16.

Pathology of callosal damage in ALS: An ex-vivo, 7 T diffusion tensor MRI study.

Cardenas, Agustin M; Sarlls, Joelle E; Kwan, Justin Y; Bageac, Devin; Gala, Zachary S; Danielian, Laura E; Ray-Chaudhury, Abhik; Wang, Hao-Wei; Miller, Karla L; Foxley, Sean; Jbabdi, Saad; Welsh, Robert C; Floeter, Mary Kay.

Neuroimage Clin ; 15: 200-208, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-28529876

17.

Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype.

Floeter, Mary Kay; Bageac, Devin; Danielian, Laura E; Braun, Laura E; Traynor, Bryan J; Kwan, Justin Y.

Neuroimage Clin ; 12: 1035-1043, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27995069

18.

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

Tazen, Sirinan; Figueroa, Karla; Kwan, Justin Y; Goldman, Jill; Hunt, Ann; Sampson, Jacinda; Gutmann, Laurie; Pulst, Stefan M; Mitsumoto, Hiroshi; Kuo, Sheng-Han.

JAMA Neurol ; 70(10): 1302-4, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23959108

19.

Imaging findings associated with cognitive performance in primary lateral sclerosis and amyotrophic lateral sclerosis.

Meoded, Avner; Kwan, Justin Y; Peters, Tracy L; Huey, Edward D; Danielian, Laura E; Wiggs, Edythe; Morrissette, Arthur; Wu, Tianxia; Russell, James W; Bayat, Elham; Grafman, Jordan; Floeter, Mary Kay.

Dement Geriatr Cogn Dis Extra ; 3(1): 233-50, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-24052798

20.

The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.

Chan, Anne Y Y; Baum, Larry; Tang, Nelson L S; Lau, Christine Y K; Ng, Ping Wing; Hui, Kwok Fai; Mizuno, Yoshi; Kwan, Justin Y; Mok, Vincent C T; Kuo, Sheng-Han.

J Clin Neurosci ; 20(5): 761-2, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23522931

Biblioteca Virtual en Salud Fronteriza

México - Estados Unidos

Su selección (0)

Formato de exportación:

Exportar:

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Diabetes and Cognitive Impairment.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.

Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.

Chronic myopathy due to immunoglobulin light chain amyloidosis.

Cognitive determinants of decisional capacity in neurodegenerative disorders.

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.

Association of Tef polymorphism with depression in Parkinson disease.

White matter alterations differ in primary lateral sclerosis and amyotrophic lateral sclerosis.

Evaluation and Management of Dysphagia in Amyotrophic Lateral Sclerosis: A Survey of Speech-Language Pathologists' Clinical Practice.

Camptocormia as a presentation of generalized inflammatory myopathy.

Poor Sleep Quality in Patients With Amyotrophic Lateral Sclerosis at the Time of Diagnosis.

Paraproteinemic neuropathy.

Pathology of callosal damage in ALS: An ex-vivo, 7 T diffusion tensor MRI study.

Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype.

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.

Imaging findings associated with cognitive performance in primary lateral sclerosis and amyotrophic lateral sclerosis.

The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.