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GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
Author / Creator:Gan‐Or, Ziv ; Mirelman, Anat ; Postuma, Ronald B. ; Arnulf, Isabelle ; Bar‐Shira, Anat ; Dauvilliers, Yves ; Desautels, Alex ; Gagnon, Jean‐François ; Leblond, Claire S. ; Frauscher, Birgit ; Alcalay, Roy N. ; Saunders‐Pullman, Rachel ; Bressman, Susan B. ; Marder, Karen ; Monaca, Christelle ; Högl, Birgit ; Orr‐Urtreger, Avi ; Dion, Patrick A. ; Montplaisir, Jacques Y. ; Giladi, Nir ; Rouleau, Guy A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2015-09, Vol.2 (9), p.941-945
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R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies
Author / Creator:Goldstein, Orly ; Gana‐Weisz, Mali ; Shiner, Tamara ; Attar, Reut ; Mordechai, Yael ; Waldman, Yedael Y. ; Bar‐Shira, Anat ; Thaler, Avner ; Gurevich, Tanya ; Mirelman, Anat ; Giladi, Nir ; Orr‐Urtreger, Avi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2021, Vol.13 (1), p.e12143-n/a
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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations
Author / Creator:Moran, Hausman-Kedem ; Ben-Sira Liat ; Kidron Debora ; Ben-Shachar, Shay ; Straussberg Rachel ; Marom Daphna ; Ponger Penina ; Bar-Shira Anat ; Malinger Gustavo ; Fattal-Valevski Aviva
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1654-1662
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Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease
Author / Creator:Thaler Avner ; Omer Nurit ; Giladi Nir ; Gurevich, Tanya ; Bar-Shira Anat ; Gana-Weisz Mali ; Goldstein, Orly ; Kestenbaum Meir ; Cedarbaum, Jesse M ; Orr-Urtreger Avi ; Shenhar-Tsarfaty Shani ; Mirelman Anat
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2021-04, Vol.268 (4), p.1517-1525
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Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease
Author / Creator:Thaler Avner ; Shenhar-Tsarfaty Shani ; Shaked Yanay ; Gurevich, Tanya ; Omer Nurit ; Bar-Shira Anat ; Gana-Weisz Mali ; Goldstein, Orly ; Kestenbaum Meir ; Cedarbaum, Jesse M ; Orr-Urtreger Avi ; Giladi Nir ; Mirelman Anat
Publisher:London: Nature Publishing Group
Journal title:Scientific reports, 2020-06, Vol.10 (1)
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The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies
Author / Creator:Sagi-Dain, Lena ; Singer, Amihood ; Falik-Zaccai, Tzipora ; Peleg, Amir ; Bar-Shira, Anat ; Feingold-Zadok, Michal ; Ben Shachar, Shay ; Maya, Idit
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of gynecology and obstetrics, 2021-09, Vol.304 (3), p.649-656
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Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients
Author / Creator:Droby, Amgad ; Yoffe-Vasiliev, Avital ; Atias, Daniel ; Fraser, Kyle B. ; Mabrouk, Omar S. ; Omer, Nurit ; Bar-Shira, Anat ; Gana-Weisz, Mali ; Goldstein, Orly ; Artzi, Moran ; Ben Bashat, Dafna ; Alcalay, Roy N. ; Orr-Urtreger, Avi ; Shirvan, Julia C. ; Cedarbaum, Jesse M. ; Giladi, Nir ; Mirelman, Anat ; Thaler, Avner
Publisher:London: Nature Publishing Group UK
Journal title:NPJ Parkinson's Disease, 2025-01, Vol.11 (1), p.7-9, Article 7
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Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease
Author / Creator:Kedmi, Merav ; Bar-Shira, Anat ; Gurevich, Tanya ; Giladi, Nir ; Orr-Urtreger, Avi
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2011-09, Vol.6 (1), p.66-66, Article 66
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Recombinant ATM protein complements the cellular A-T phenotype
Author / Creator:Ziv, Yael ; Bar-Shira, Anat ; Pecker, Iris ; Russell, Pamela ; Jorgensen, Timothy J ; Tsarfati, Ilan ; Shiloh, Yosef
Publisher:Basingstoke: Nature Publishing
Journal title:Oncogene, 1997-07, Vol.15 (2), p.159-167
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Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations
Author / Creator:Fukao, Toshiyuki ; Song, Xiang-Qian ; Yoshida, Toko ; Tashita, Hideaki ; Kaneko, Hideo ; Teramoto, Takahide ; Inoue, Ryosuke ; Katamura, Kenji ; Mayumi, Mitsufumi ; Hiratani, Michio ; Taniguchi, Noboru ; Arai, Junichi ; Wakiguchi, Hiroshi ; Bar-Shira, Anat ; Shiloh, Yosef ; Kondo, Naomi
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1998, Vol.12 (5), p.338-343
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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Author / Creator:Barel, Dalit ; Marom, Daphna ; Ponger, Penina ; Kurolap, Alina ; Bar-Shira, Anat ; Kaplan-Ber, Idit ; Mory, Adi ; Abramovich, Beatrice ; Yaron, Yuval ; Drory, Vivian ; Baris Feldman, Hagit
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2024-07, Vol.271 (7), p.4258-4266
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Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel
Author / Creator:Gilad, Shlomit ; Khosravi, Rami ; Harnik, Reli ; Ziv, Yael ; Shkedy, Dganit ; Galanty, Yaron ; Frydman, Moshe ; Levi, Jacov ; Sanal, Ozden ; Chessa, Luciana ; Smeets, Dominique ; Shiloh, Yosef ; Bar-Shira, Anat
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1998, Vol.11 (1), p.69-75
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IMAPT/I Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis
Author / Creator:Shani, Shachar ; Gana-Weisz, Mali ; Bar-Shira, Anat ; Thaler, Avner ; Gurevich, Tanya ; Mirelman, Anat ; Giladi, Nir ; Alcalay, Roy N ; Goldstein, Orly ; Orr-Urtreger, Avi
Publisher:MDPI AG
Journal title:Genes, 2023-12, Vol.15 (1)
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MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis
Author / Creator:Shani, Shachar ; Gana-Weisz, Mali ; Bar-Shira, Anat ; Thaler, Avner ; Gurevich, Tanya ; Mirelman, Anat ; Giladi, Nir ; Alcalay, Roy N. ; Goldstein, Orly ; Orr-Urtreger, Avi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-01, Vol.15 (1), p.46
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SEPT14 Is Associated with a Reduced Risk for Parkinson’s Disease and Expressed in Human Brain
Author / Creator:Rozenkrantz, Liron ; Gan-Or, Ziv ; Gana-Weisz, Mali ; Mirelman, Anat ; Giladi, Nir ; Bar-Shira, Anat ; Orr-Urtreger, Avi
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2016-07, Vol.59 (3), p.343-350
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C9orf72-G4C2 Intermediate Repeats and Parkinson’s Disease; A Data-Driven Hypothesis
Author / Creator:Kobo, Hila ; Goldstein, Orly ; Gana-Weisz, Mali ; Bar-Shira, Anat ; Gurevich, Tanya ; Thaler, Avner ; Mirelman, Anat ; Giladi, Nir ; Orr-Urtreger, Avi
Publisher:Basel: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (8), p.1210
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Variable PARK2 Mutations Cause Early-Onset Parkinson’s Disease in a Small Restricted Population
Author / Creator:Ben-Shachar, Shay ; Afawi, Zaid ; Masalha, Rafik ; Badarny, Samih ; Neiman, Tova ; Pavzner, Dina ; Bar-Shira, Anat ; Orr-Urtreger, Avi
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2017-10, Vol.63 (2), p.216-222
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The Age at Motor Symptoms Onset in LRRK2-Associated Parkinson's Disease is Affected by a Variation in the MAPT Locus: A Possible Interaction
Author / Creator:Gan-Or, Ziv ; Bar-Shira, Anat ; Mirelman, Anat ; Gurevich, Tanya ; Giladi, Nir ; Orr-Urtreger, Avi
Publisher:New York: Humana Press Inc
Journal title:Journal of molecular neuroscience, 2012-03, Vol.46 (3), p.541-544
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C9orf72 -G 4 C 2 Intermediate Repeats and Parkinson's Disease; A Data-Driven Hypothesis
Author / Creator:Kobo, Hila ; Goldstein, Orly ; Gana-Weisz, Mali ; Bar-Shira, Anat ; Gurevich, Tanya ; Thaler, Avner ; Mirelman, Anat ; Giladi, Nir ; Orr-Urtreger, Avi
Publisher:Switzerland
Journal title:Genes, 2021-08, Vol.12 (8)
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Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia
Author / Creator:Fukao, Toshiyuki ; Tashita, Hideaki ; Teramoto, Takahide ; Inoue, Ryosuke ; Kaneko, Hideo ; Komiyama, Kayo ; Bar-Shira, Anat ; Gilad, Shlomit ; Shiloh, Yosef ; Nishimura, Masaaki ; Kondo, Naomi
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1998, Vol.11 (S1), p.S223-S225
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Showing 1 to 20 of 31 results

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GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

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R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies

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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

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Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease

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Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease

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The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies

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Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients

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Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease

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Recombinant ATM protein complements the cellular A-T phenotype

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Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations

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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis

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Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel

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IMAPT/I Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis

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MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis

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SEPT14 Is Associated with a Reduced Risk for Parkinson’s Disease and Expressed in Human Brain

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C9orf72-G4C2 Intermediate Repeats and Parkinson’s Disease; A Data-Driven Hypothesis

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Variable PARK2 Mutations Cause Early-Onset Parkinson’s Disease in a Small Restricted Population

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The Age at Motor Symptoms Onset in LRRK2-Associated Parkinson's Disease is Affected by a Variation in the MAPT Locus: A Possible Interaction

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C9orf72 -G 4 C 2 Intermediate Repeats and Parkinson's Disease; A Data-Driven Hypothesis

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Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia

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