Accès ouvert
2024
article
OpenAlex
Diego Francisco Pérez Villarroel, Dylanis Lopez Ruiz, Natalia Estefanía Chacón-Manjarrez
Background: The tear film acts as the primary protective barrier of the eye, ensuring its proper hydration and nutrition. This thin layer, composed of water, lipids, and proteins, can be compromised by various factors, among which is smoking. This is a frequently …
ec
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Accès ouvert
2015
article
OpenAlex
Karen Marder, Yuanjia Wang, Roy N. Alcalay, Helen Mejia‐Santana et autres
OBJECTIVE: Estimates of the penetrance of LRRK2 G2019S vary widely (24%-100%), reflective of differences in ascertainment, age, sex, ethnic group, and genetic and environmental modifiers. METHODS: The kin-cohort method was used to predict penetrance in 2,270 relatives of 474 Ashkenazi Jewish (AJ) …
il, us
(code pays fourni par la source)
Accès ouvert
2014
article
OpenAlex
Madeleine Sharp, Elise Caccappolo, Helen Mejia‐Santana, Ming‐X. Tang et autres
BACKGROUND: Few studies have systematically investigated the association between PARKIN genotype and psychiatric co-morbidities of Parkison's disease (PD). PARKIN-associated PD is characterized by severe nigral dopaminergic neuronal loss, a finding that may have implications for behaviors rooted in dopaminergic circuits such as …
us, pr
(code pays fourni par la source)
Accès ouvert
2013
article
OpenAlex
Roy N. Alcalay, Elise Caccappolo, Helen Mejia‐Santana, Ming Tang et autres
IMPORTANCE: Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients. OBJECTIVE: Among patients with early-onset PD of long duration, we assessed cognitive and motor performances, comparing homozygotes and …
us, pr
(code pays fourni par la source)
Accès ouvert
2013
article
OpenAlex
Roy N. Alcalay, Anat Mirelman, Rachel Saunders‐Pullman, Ming‐X Tang et autres
The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish …
us, il
(code pays fourni par la source)
Accès ouvert
2012
article
OpenAlex
Maira Quirós Enríquez, Dylanis Lopez Ruiz, Olga Cuevas Pérez, Pedro Milián Vázquez et autres
cu
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2012
conference-abstract
OpenAlex
Elise Caccappolo, Roy N. Alcalay, Karen Marder, M.‐X. Tang et autres
Objective: To compare the cognitive performance carriers and non-carriers of parkin mutations with long disease duration. Background We and others have reported that early-onset Parkinson disease (EOPD) individuals who are parkin mutation carriers have similar neuropsychological performance to non-carriers; however, it is …
us
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2012
conference-abstract
OpenAlex
Karen Marder, Ming Tang, Roy N. Alcalay, L. Rosado et autres
Accès ouvert
2012
article
OpenAlex
Roy N. Alcalay, Elise Caccappolo, Helen Mejia‐Santana, Ming Tang et autres
OBJECTIVE: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). METHODS: We administered a neuropsychological battery and the University of Pennsylvania Smell Identification Test (UPSIT) to participants in the CORE-PD study who were tested for mutations …
no, us
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Accès ouvert
2010
article
OpenAlex
Roy N. Alcalay, Andrew Siderowf, Ruth Ottman, Elise Caccappolo et autres
BACKGROUND: While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown. OBJECTIVE: To assess …
us, nl
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