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Autosomal dominant diseases

Screening and treatment of familial hypercholesterolemia in a French sample of ambulatory care patients: A retrospective longitudinal cohort study

Jean Ferrières, Victoria Banks, Demetris Pillas, Francesco Giorgianni, Laurene Gantzer, Beranger Lekens, Lea Ricci, Margaux Dova-Boivin, Jean-Vannak Chauny, Guillermo Villa, Gaelle Désaméricq

published 02 Aug 2021

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Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK

Long-Sheng Chang, Janet L. Oblinger, Abbi E. Smith, Marc Ferrer, Steven P. Angus, Eric Hawley, Alejandra M. Petrilli, Roberta L. Beauchamp, Lars Björn Riecken, Serkan Erdin, Ming Poi, Jie Huang, Waylan K. Bessler, Xiaohu Zhang, Rajarshi Guha, Craig Thomas, Sarah S. Burns, Thomas S. K. Gilbert, Li Jiang, Xiaohong Li, Qingbo Lu, Jin Yuan, Yongzheng He, Shelley A. H. Dixon, Andrea Masters, David R. Jones, Charles W. Yates, Stephen J. Haggarty, Salvatore La Rosa, D. Bradley Welling, Anat O. Stemmer-Rachamimov, Scott R. Plotkin, James F. Gusella, Justin Guinney, Helen Morrison, Vijaya Ramesh, Cristina Fernandez-Valle, Gary L. Johnson, Jaishri O. Blakeley, D. Wade Clapp, on behalf of the Synodos for NF2 Consortium

published 15 Jul 2021

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The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies

Pietro Ferrara, Danilo Di Laura, Paolo A. Cortesi, Lorenzo G. Mantovani

published 12 Jul 2021

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The relationship between non-motor features and weight-loss in the premanifest stage of Huntington’s disease

Wasiq Khan, Sundus Alusi, Hissam Tawfik, Abir Hussain

published 01 Jul 2021

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Hybrid 2-[¹⁸F] FDG PET/MRI in premanifest Huntington’s disease gene-expansion carriers: The significance of partial volume correction

Marie N. N. Hellem, Tua Vinther-Jensen, Lasse Anderberg, Esben Budtz-Jørgensen, Lena E. Hjermind, Vibeke Andrée Larsen, Jørgen E. Nielsen, Ian Law

published 11 Jun 2021

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Computer-aided identification of degenerative neuromuscular diseases based on gait dynamics and ensemble decision tree classifiers

Luay Fraiwan, Omnia Hassanin

published 04 Jun 2021

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Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry

Khalid F. Alhabib, Khalid Al-Rasadi, Turky H. Almigbal, Mohammed A. Batais, Ibrahim Al-Zakwani, Faisal A. Al-Allaf, Khalid Al-Waili, Fahad Zadjali, Mohammad Alghamdi, Fahad Alnouri, Zuhier Awan, Abdulhalim J. Kinsara, Ahmed AlQudaimi, Wael Almahmeed, Hani Sabbour, Mahmoud Traina, Bassam Atallah, Mohammed Al-Jarallah, Ahmad AlSarraf, Nasreen AlSayed, Haitham Amin, Hani Altaradi

published 04 Jun 2021

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Iron activates microglia and directly stimulates indoleamine-2,3-dioxygenase activity in the N171-82Q mouse model of Huntington’s disease

David W. Donley, Marley Realing, Jason P. Gigley, Jonathan H. Fox

published 14 May 2021

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Abnormally abrupt transitions from sleep-to-wake in Huntington’s disease sheep (Ovis aries) are revealed by automated analysis of sleep/wake transition dynamics

William T. Schneider, Szilvia Vas, Alister U. Nicol, A. Jennifer Morton

published 13 May 2021

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Ocular biometric parameters changes and choroidal vascular abnormalities in patients with neurofibromatosis type 1 evaluated by OCT-A

Aldo Vagge, Paolo Corazza, Lorenzo Ferro Desideri, Paola Camicione, Giulia Agosto, Roberta Vagge, Calevo Maria Grazia, Adriano Carnevali, Giuseppe Giannaccare, Massimo Nicolò, Carlo Enrico Traverso

published 06 May 2021

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System biology and bioinformatics pipeline to identify comorbidities risk association: Neurodegenerative disorder case study

Utpala Nanda Chowdhury, Shamim Ahmad, M. Babul Islam, Salem A. Alyami, Julian M. W. Quinn, Valsamma Eapen, Mohammad Ali Moni

published 06 May 2021

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Fibrotic expression profile analysis reveals repurposed drugs with potential anti-fibrotic mode of action

Evangelos Karatzas, Andrea C. Kakouri, George Kolios, Alex Delis, George M. Spyrou

published 07 Apr 2021

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Planning deficits in Huntington’s disease: A brain structural correlation by voxel-based morphometry

Jesus Calderon-Villalon, Gabriel Ramirez-Garcia, Juan Fernandez-Ruiz, Fernanda Sangri-Gil, Aurelio Campos-Romo, Victor Galvez

published 24 Mar 2021

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