ConradChristianWeihlMD

PubMed

• VCP Inhibition Augments NLRP3 Inflammasome Activation.
  Ankita Sharma, Dhruva D Dhavale, Paul T Kotzbauer, Conrad C Weihl> ;Inflammation. 2024 Apr 2
• Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
  Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Katherine D Mathews, Matthew Wicklund, Man Hung, Nicholas E Johnson, , Tahseen Mozaffar, Conrad C Weihl, Jef...> ;BMC Neurology. 2024 Mar 15
• 272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18...
  James B Lilleker, Christiaan G J Saris, Jens Schmidt, Marianne de Visser, , Elie Naddaf, Conrad C Weihl> ;Neuromuscular Disorders. 2024 Apr 1
• Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.
  Antoinette Cheung, Ivana F Audhya, Shelagh M Szabo, Michael Friesen, Conrad C Weihl, Katherine L Gooch> ;Journal of Clinical Neuromuscular Disease. 2023 Dec 1
• An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
  Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, William Burns, Steven A Skinner, Øystein L Holla, Marie F Smeland, Marc Planes, Kevin Ugu...> ;American Journal of Human Genetics. 2023 Nov 2
• Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study.
  Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Kathy Mathews, Conrad C Weihl, Matthew Wicklund, Jeffery Statland, Nicholas E Johnson> ;Research Square. 2023 Oct 6
• 3 citations
  Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
  Garret, M., Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Eva Nyvltova, Matt C Danzi, Mark Garrett, Sean E Smith, Alan Pestronk, Cheng...> ;Brain. 2023 Oct 3
• Exploring hand and upper limb function in patients with inclusion body myositis (IBM).
  Stephanie Hunn, Lindsay Alfano, Michelle Seiffert, Conrad C Weihl> ;Neuromuscular Disorders. 2023 Aug 1
• Genetic deletion of skeletal muscle iPLAγ results in mitochondrial dysfunction, muscle atrophy and alterations in whole-body energy metabolism.
  Sung Ho Moon, Beverly Gibson Dilthey, Shaoping Guan, Harold F Sims, Sara K Pittman, Amy L Keith, Christopher M Jenkins, Conrad C Weihl, Richard W Gross> ;Iscience. 2023 Jun 16
• 2 citations
  Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
  Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C Weihl, Gabe Haller> ;The Journal of Clinical Investigation. 2023 Jun 15
• 1 citations
  DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1.
  Andrew R Findlay, May M Paing, Jil A Daw, Meade Haller, Rocio Bengoechea, Sara K Pittman, Shan Li, Feng Wang, Timothy M Miller, Heather L True, Tsui-Fen Chou, Conrad C...> ;Molecular Therapy. Nucleic Acids. 2023 Jun 13
• Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
  Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Wei...> ;Human Molecular Genetics. 2023 Jun 5
• 6 citations
  The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition.
  Rakesh Ganji, Joao A Paulo, Yuecheng Xi, Ian Kline, Jiang Zhu, Christoph S Clemen, Conrad C Weihl, John G Purdy, Steve P Gygi, Malavika Raman> ;Nature Communications. 2023 Feb 6
• 3 citations
  Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
  Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Teruno...> ;Acta Neuropathologica. 2023 Feb 1
• 4 citations
  Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
  Conrad C Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernán...> ;Acta Neuropathologica. 2023 Jan 1
• 1 citations
  LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
  Andrew R Findlay, Sarah E Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C Weihl> ;Annals of Clinical and Translational Neurology. 2023 Feb 1
• 1 citations
  Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exc...
  Ankan K Bhadra, Michael J Rau, Jil A Daw, James A J Fitzpatrick, Conrad C Weihl, Heather L True> ;Nature Communications. 2022 Aug 5
• 17 citations
  Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
  Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zan...> ;Journal of Neurology, Neurosurgery, and Psychiatry. 2022 Jul 27
• 8 citations
  Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
  Jeffrey M Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz-Manera, Jeffrey T Guptill, Lawrence Korngut, Angela Genge, Rabi N Tawil, Lauren Elman, Nanette...> ;Muscle & Nerve. 2022 Jul 1
• 24 citations
  Multisystem Proteinopathy Due toMutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
  Gerald Pfeffer, Grace Lee, Carly S Pontifex, Roberto D Fanganiello, Allison Peck, Conrad C Weihl, Virginia Kimonis> ;Genes. 2022 May 27
• 15 citations
  VCP suppresses proteopathic seeding in neurons.
  Jiang Zhu, Sara Pittman, Dhruva Dhavale, Rachel French, Jessica N Patterson, Mohamed Salman Kaleelurrrahuman, Yuanzi Sun, Jaime Vaquer-Alicea, Gianna Maggiore, Christo...> ;Molecular Neurodegeneration. 2022 Apr 12
• 3 citations
  Current and Future Approaches to Classify VUSs in LGMD-Related Genes.
  Chengcheng Li, Gabe Haller, Conrad C Weihl> ;Genes. 2022 Feb 19
• 17 citations
  Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
  Manisha Korb, Allison Peck, Lindsay N Alfano, Kenneth I Berger, Meredith K James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P A Mammen, Su...> ;Orphanet Journal of Rare Diseases. 2022 Jan 29
• 4 citations
  Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
  Ivana F Audhya, Antoinette Cheung, Shelagh M Szabo, Emma Flint, Conrad C Weihl, Katherine L Gooch> ;Journal of Neuromuscular Diseases. 2022 Jan 1
• 2 citations
  Patient Reported Quality of Life in Limb Girdle Muscular Dystrophy
  Laurel Kovalchick, Kameron Bates, Jeffrey Statland, C. Weihl, Peter B. Kang, Linda Lowes, Tahseen Mozaffar, Volker Straub, Matthew Wicklund, Chad Heatwole, Nicholas E....> ;Neuromuscular Disorders. 2021 Nov 13
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Journal Articles

• CANOMAD and Other Chronic Ataxic Neuropathies with Disialosyl Antibodies (CANDA)  
  R Brian Sommerville, Craig M Zaidman, Glenn Lopate, Alan Pestronk, Conrad C Weihl, Robert C Bucelli, Journal of Neurology