Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Isabel Alfradique‐Dunham"'
Autor:
W. R. Wayne Martin, John R. Younce, Meghan C. Campbell, Brad A. Racette, Scott A. Norris, Mwiza Ushe, Susan Criswell, Albert A. Davis, Isabel Alfradique‐Dunham, Baijayanta Maiti, Nigel J. Cairns, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter
Publikováno v:
Annals of Neurology. 93:184-195
The objective of this study was to evaluate the relationship between Parkinson's disease (PD) with dementia and cortical proteinopathies in a large population of pathologically confirmed patients with PD.We reviewed clinical data from all patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d87837005b260b171ce1f2121d30a4c
https://doi.org/10.1002/ana.26542
https://doi.org/10.1002/ana.26542
Autor:
Blas Couto, Ivan Martinez‐Valbuena, Seojin Lee, Isabel Alfradique‐Dunham, Richard J. Perrin, Joel S. Perlmutter, Carlos Cruchaga, Ain Kim, Naomi Visanji, Christine Sato, Ekaterina Rogaeva, Anthony E. Lang, Gabor G. Kovacs
Publikováno v:
Eur J Neurol
BACKGROUND AND PURPOSE: Progressive supranuclear palsy (PSP) encompasses a broader range of disease courses than previously appreciated. The most frequent clinical presentations of PSP are Richardson syndrome (RS) and PSP with a predominant Parkinson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa42ae6b1c2c1d50143e5dad17779aa1
https://doi.org/10.1111/ene.15346
https://doi.org/10.1111/ene.15346
Autor:
Oluwafunmiso Fagbongbe, C. Grant Mangleburg, Lisa M. Shulman, Sindhu Rao, Amanda Stillwell, Joshua M. Shulman, Hiba Saade, Brittany Ripperger, Arjun Tarakad, Emily Hill, Rainer von Coelln, Aron S. Buchman, Isabel Alfradique-Dunham, Joseph Jankovic, Christine Hunter, Robert J. Dawe
Publikováno v:
Parkinsonism Relat Disord
IntroductionEmerging technologies show promise for enhanced characterization of Parkinson’s Disease (PD) motor manifestations. We evaluated quantitative mobility measures from a wearable device compared to the conventional motor assessment, the Mov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56d95f383175f36f79ab6185b332d07
https://pubmed.ncbi.nlm.nih.gov/33607526
https://pubmed.ncbi.nlm.nih.gov/33607526
Autor:
Joshua M. Shulman, Manuela Tan, Zhandong Liu, Rami Al-Ouran, Amanda Stillwell, Huw R. Morris, Emily Hill, Lasse Pihlstrøm, Joseph Jankovic, Emily Young, Andrew B. Singleton, Lisa M. Shulman, Lan Luo, Cornelis Blauwendraat, Isabel Alfradique-Dunham, Rainer von Coelln, Mike A. Nalls, Dena G. Hernandez, Donald G. Grosset, Guy A. Rouleau, Calwing Liao
OBJECTIVETo discover genetic determinants of Parkinson disease (PD) motor subtypes, including Tremor Dominant (TD) and Postural Instability/Gait Difficulty (PIGD) forms.METHODSIn 3,212 PD cases of European ancestry, we performed a genome-wide associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c79f729953bf749867e5570a2256e7c
https://doi.org/10.1101/2020.06.26.174276
https://doi.org/10.1101/2020.06.26.174276
Autor:
Austin Hu, Isabel Alfradique-Dunham, Corey E. Goldsmith, Hitha Amin, Alfredo Davalos-Balderas, Sharon Chiang, Tanu Garg
Publikováno v:
Neurology. 90:936-939
Relapse of anti-NMDA receptor (NMDAR) encephalitis should be considered in all patients with history of anti-NMDAR encephalitis presenting with new acute-onset encephalopathy or psychosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137af67887f694a76301976f26a693ff
https://doi.org/10.1212/wnl.0000000000005517
https://doi.org/10.1212/wnl.0000000000005517
Publikováno v:
Expert Opinion on Orphan Drugs. 5:707-716
Introduction: Dystonia is a neurologic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The etiology of dystonia is diverse and it includes genetic and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf6ccda677ee9ea32ef5a93d73387411
https://doi.org/10.1080/21678707.2017.1366309
https://doi.org/10.1080/21678707.2017.1366309
Autor:
Joseph Jankovic, Evelyn Hinojosa, James R. Lupski, Shen Gu, Vismaya Kondapalli, Shalini N. Jhangiani, Xiaofei Song, Chad A. Shaw, Chaofan Zhang, Bo Yuan, Amanda Stillwell, Laurie Robak, Emily Young, Weimin Bi, Tomasz Gambin, Donna M. Muzny, Jennifer E. Posey, Renqian Du, Isabel Alfradique-Dunham, Owen A. Ross, Anusha Tejomurtula, Joshua M. Shulman, Zeynep Coban Akdemir, Haowei Du
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo determine how single nucleotide variants (SNVs) and copy number variants (CNVs) contribute to molecular diagnosis in familial Parkinson disease (PD), we integrated exome sequencing (ES) and genome-wide array-based comparative genomic hybr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91bd7f7ad478831dbf46c72f9298794
https://pubmed.ncbi.nlm.nih.gov/32802956
https://pubmed.ncbi.nlm.nih.gov/32802956
Autor:
Vismaya Kondapalli, Evelyn Hinojosa, Owen A. Ross, Chuansheng Zhang, Jennifer E. Posey, Anusha Tejomurtula, Renqian Du, Amanda Stillwell, Isabel Alfradique-Dunham, Xianzhou Song, Tomaz Gambin, Weimin Bi, Emily Young, James R. Lupski, Shalini N. Jhangiani, Shen Gu, Haowei Du, Joseph Jankovic, Joshua M. Shulman, Donna M. Muzny, Laurie Robak, Chad A. Shaw, Bo Yuan, Z. Coban Akdemir
BackgroundParkinson’s disease (PD) is a genetically heterogeneous condition; both single nucleotide variants (SNVs) and copy number variants (CNVs) are important genetic risk factors. We examined the utility of combining exome sequencing and genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b982729c7d652cfd85665ac11e346c
Autor:
Andrew B. Singleton, Joseph Jankovic, Emily Hill, Amanda Stillwell, Cornelis Blauwendraat, Donald Grosset, Joshua M. Shulman, Guy A. Rouleau, Emily Young, Lasse Pihlstrøm, Lisa M. Shulman, Calwing Liao, Mike A. Nalls, Isabel Alfradique-Dunham, Rami Al-Ouran, Manuela Tan, Rainer von Coelln, Dena G. Hernandez, Anita Kaw, Lan Luo, Zhandong Liu, Huw R. Morris
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo discover genetic determinants of Parkinson disease (PD) motor subtypes, including tremor dominant (TD) and postural instability/gait difficulty (PIGD) forms.MethodsIn 3,212 PD cases of European ancestry, we performed a genome-wide associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8448e484150e480e0a8a49d410222713
https://doi.org/10.1212/nxg.0000000000000557
https://doi.org/10.1212/nxg.0000000000000557