Search Results - "Bernard P.H. Cho"

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants by Cho, Bernard P H, Nannoni, Stefania, Harshfield, Eric L, Tozer, Daniel, Gräf, Stefan, Bell, Steven, Markus, Hugh S

“…BackgroundCysteine-altering NOTCH3 variants identical to those causing the rare monogenic form of stroke, CADASIL (cerebral autosomal dominant arteriopathy…”
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Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke by Cho, Bernard P H, Harshfield, Eric L, Al-Thani, Maha, Tozer, Daniel J, Bell, Steven, Markus, Hugh S

“…It is uncertain whether typical variants causing monogenic stroke are associated with cerebrovascular disease in the general population and why the phenotype…”
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Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL by Cho, Bernard P.H., Jolly, Amy A., Nannoni, Stefania, Tozer, Daniel, Bell, Steven, Markus, Hugh S.

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by a cysteine-altering variant in 1 of the 34…”
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Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL by Cho, Bernard P.H., Jolly, Amy A, Nannoni, Stefania, Tozer, Daniel, Bell, Steven, Markus, Hugh S

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Whole exome sequencing in a sample of Egyptian patients with covert cerebral small vessel disease by Aref, Hany, Maged, Mohamed, Roushdy, Tamer, Shokri, Hossam, Hamid, Eman, Cho, Bernard P. H, Markus, Hugh S, Fathy, Mai, El Nahas, Nevine

“…BackgroundCovert cerebral small vessel disease (cCSVD) is associated with many age-related morbidities with little available data regarding the pathophysiology…”
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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 by Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, Maroofian, Reza

“…NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small…”
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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context by Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian

“…Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary…”
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