Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
Yu, Eric, Rudakou, Uladzislau, Krohn, Lynne, Mufti, Kheireddin, Ruskey, Jennifer A., Asayesh, Farnaz, Estiar, Mehrdad A., Spiegelman, Dan, Surface, Matthew, Fahn, Stanley, Waters, Cheryl H., Greenbaum, Lior, Espay, Alberto J., Dauvilliers, Yves, Dupré, Nicolas, Rouleau, Guy A., Hassin‐Baer, Sharon, Fon, Edward A., Alcalay, Roy N., Gan‐Or, Ziv
Published in Movement disorders (01.01.2021)
Published in Movement disorders (01.01.2021)
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Journal Article
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Gilley, Jonathan, Jackson, Oscar, Pipis, Menelaos, Estiar, Mehrdad A, Al-Chalabi, Ammar, Danzi, Matt C, van Eijk, Kristel R, Goutman, Stephen A, Harms, Matthew B, Houlden, Henry, Iacoangeli, Alfredo, Kaye, Julia, Lima, Leandro, Ravits, John, Rouleau, Guy A, Schüle, Rebecca, Xu, Jishu, Züchner, Stephan, Cooper-Knock, Johnathan, Gan-Or, Ziv, Reilly, Mary M, Coleman, Michael P
Published in eLife (19.11.2021)
Published in eLife (19.11.2021)
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Journal Article
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
Leveille, Etienne, Estiar, Mehrdad A, Krohn, Lynne, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dupré, Nicolas, Trempe, Jean François, Rouleau, Guy A, Gan-Or, Ziv
Published in Journal of human genetics (01.11.2019)
Published in Journal of human genetics (01.11.2019)
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Journal Article
Fine mapping of the HLA locus in Parkinson’s disease in Europeans
Yu, Eric, Ambati, Aditya, Andersen, Maren Stolp, Krohn, Lynne, Estiar, Mehrdad A., Saini, Prabhjyot, Senkevich, Konstantin, Sosero, Yuri L., Sreelatha, Ashwin Ashok Kumar, Ruskey, Jennifer A., Asayesh, Farnaz, Spiegelman, Dan, Toft, Mathias, Viken, Marte K., Sharma, Manu, Blauwendraat, Cornelis, Pihlstrøm, Lasse, Mignot, Emmanuel, Gan-Or, Ziv
Published in NPJ Parkinson's Disease (21.09.2021)
Published in NPJ Parkinson's Disease (21.09.2021)
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Journal Article
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype
Estiar, Mehrdad A., Leveille, Etienne, Spiegelman, Dan, Dupre, Nicolas, Trempe, Jean-François, Rouleau, Guy A., Gan‐Or, Ziv
Published in Molecular genetics & genomic medicine (01.03.2020)
Published in Molecular genetics & genomic medicine (01.03.2020)
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Journal Article
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Rebelo, Adriana P., Ruiz, Ariel, Dohrn, Maike F., Wayand, Melanie, Farooq, Amjad, Danzi, Matt C., Beijer, Danique, Aaron, Brooke, Vandrovcova, Jana, Houlden, Henry, Matalonga, Leslie, Abreu, Lisa, Rouleau, Guy, Estiar, Mehrdad A., Van de Vondel, Liedewei, Gan-Or, Ziv, Baets, Jonathan, Schüle, Rebecca, Zuchner, Stephan
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
Transcriptome analysis highlights common pathways between Alzheimer’s disease, dementia with Lewy bodies and Parkinson’s disease
Senkevich, Konstantin, Nikanorova, Daria, Protsenko, Ludmila, Yu, Eric, Krohn, Lynne, Mufti, Kheireddin, Estiar, Mehrdad A, Gan‐Or, Ziv
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia
Estiar, Mehrdad A., Lail, Noor, Dyment, David A., Varghaei, Parizad, Hartley, Taila, Gillespie, Meredith K., Yoon, Grace, Boycott, Kym M., Rouleau, Guy A., Gan‐Or, Ziv
Published in Annals of neurology (01.05.2022)
Published in Annals of neurology (01.05.2022)
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Journal Article
Genetic, structural and clinical analysis of spastic paraplegia 4
Varghaei, Parizad, Estiar, Mehrdad A., Ashtiani, Setareh, Veyron, Simon, Mufti, Kheireddin, Leveille, Etienne, Yu, Eric, Spiegelman, Dan, Rioux, Marie-France, Yoon, Grace, Tarnopolsky, Mark, Boycott, Kym M., Dupre, Nicolas, Suchowersky, Oksana, Trempe, Jean-François, Rouleau, Guy A., Gan-Or, Ziv
Published in Parkinsonism & related disorders (01.05.2022)
Published in Parkinsonism & related disorders (01.05.2022)
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Journal Article
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder
Paul, Franziska, Ng, Calista, Sahari, Umar Bin Mohamad, Nafissi, Shahriar, Nilipoor, Yalda, Tavasoli, Ali Reza, Bonnard, Carine, Wong, Pui-Mun, Nabavizadeh, Nasrinsadat, Altunoğlu, Umut, Estiar, Mehrdad A, Majoie, Charles B, Lee, Hane, Nelson, Stanley F, Gan-Or, Ziv, Rouleau, Guy A, Van Veldhoven, Paul P, Massie, Rami, Hennekam, Raoul C, Kariminejad, Ariana, Reversade, Bruno
Published in Human molecular genetics (28.10.2022)
Published in Human molecular genetics (28.10.2022)
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Journal Article
Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease
Estiar, Mehrdad A., Senkevich, Konstantin, Yu, Eric, Varghaei, Parizad, Krohn, Lynne, Bandres‐Ciga, Sara, Noyce, Alastair J., Rouleau, Guy A., Gan‐Or, Ziv
Published in Movement disorders (01.08.2021)
Published in Movement disorders (01.08.2021)
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Journal Article
Evaluation of DNA methylation status of toll‐like receptors 2 and 4 promoters in Behcet's disease
Kolahi, Sousan, Rashtchizadeh, Nadereh, Mahdavi, Aida Malek, Farhadi, Jafar, Khabbazi, Alireza, Sakhinia, Ebrahim, Bahavarnia, Neda, Farajzadeh Polsangi, Mohammad Jahed, Babaloo, Zohreh, Estiar, Mehrdad A.
Published in The journal of gene medicine (01.10.2020)
Published in The journal of gene medicine (01.10.2020)
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Journal Article
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Journal Article
Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7
Estiar, Mehrdad A., Yu, Eric, Haj Salem, Ikhlass, Ross, Jay P., Mufti, Kheireddin, Akçimen, Fulya, Leveille, Etienne, Spiegelman, Dan, Ruskey, Jennifer A., Asayesh, Farnaz, Dagher, Alain, Yoon, Grace, Tarnopolsky, Mark, Boycott, Kym M., Dupre, Nicolas, Dion, Patrick A., Suchowersky, Oksana, Trempe, Jean‐Francois, Rouleau, Guy A., Gan‐Or, Ziv
Published in Movement disorders (01.07.2021)
Published in Movement disorders (01.07.2021)
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Journal Article
GCH1 mutations in hereditary spastic paraplegia
Varghaei, Parizad, Yoon, Grace, Estiar, Mehrdad A., Veyron, Simon, Leveille, Etienne, Dupré, Nicolas, Trempe, Jean‐François, Rouleau, Guy A., Gan‐Or, Ziv
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Journal Article
Expression Analysis of MicroRNA-222 in Breast Cancer
Amini, Sima, Abak, Atefeh, Estiar, Mehrdad A, Montazeri, Vahid, Abhari, Alireza, Sakhinia, Ebrahim
Published in Clinical laboratory (Heidelberg) (01.01.2018)
Published in Clinical laboratory (Heidelberg) (01.01.2018)
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Assessing non-Mendelian inheritance in inherited axonopathies
Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Journal Article
Analysis of miRNA-221 Expression Level in Tumors and Marginal Biopsies from Patients with Breast Cancer (Cross-Sectional Observational Study)
Abak, Atefe, Amini, Sima, Estiar, Mehrdad A, Montazeri, Vahid, Sakhinia, Ebrahim, Abhari, Alireza
Published in Clinical laboratory (Heidelberg) (01.01.2018)
Published in Clinical laboratory (Heidelberg) (01.01.2018)
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