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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: heckmann jm. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
A clinical protocol for a German birth cohort study of the Maturation of Immunity Against respiratory viral Infections (MIAI).
Hartmann CR, Khan R, Schöning J, Richter M, Willers M, Pirr S, Heckmann J, Dirks J, Morbach H, Konrad M, Fries E, Winkler M, Büchel J, Seidenspinner S, Fischer J, Vollmuth C, Meinhardt M, Marissen J, Schmolke M, Haid S, Pietschmann T, Backes S, Dölken L, Löber U, Keil T, Heuschmann PU, Wöckel A, Sagar, Ulas T, Forslund-Startceva SK, Härtel C, Viemann D. Hartmann CR, et al. Among authors: heckmann j. Front Immunol. 2024 Sep 17;15:1443665. doi: 10.3389/fimmu.2024.1443665. eCollection 2024. Front Immunol. 2024. PMID: 39355253 Free PMC article.
Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis.
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J; CReATe Consortium PGB1 Study Investigators. Benatar M, et al. Among authors: heckmann jm. EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323. Epub 2024 Sep 12. EBioMedicine. 2024. PMID: 39270623 Free PMC article.
Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations.
Sinkala M, Retshabile G, Mpangase PT, Bamba S, Goita MK, Nembaware V, Elsheikh SSM, Heckmann J, Esoh K, Matshaba M, Adebamowo CA, Adebamowo SN, Amih OE, Wonkam A, Ramsay M, Mulder N. Sinkala M, et al. Among authors: heckmann j. medRxiv [Preprint]. 2024 Aug 12:2024.08.11.24311816. doi: 10.1101/2024.08.11.24311816. medRxiv. 2024. PMID: 39185519 Free PMC article. Preprint.
Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis.
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Benatar M, et al. Among authors: heckmann jm. medRxiv [Preprint]. 2024 Aug 13:2024.08.12.24311876. doi: 10.1101/2024.08.12.24311876. medRxiv. 2024. Update in: EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323 PMID: 39185513 Free PMC article. Updated. Preprint.
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Gao F, Schon KR, Vandrovcova J, Wilson L, Hanna MG; ICGNMD Consortium; Çavdarlı B, Heckmann J, Chinnery PF, Horvath R. Gao F, et al. Among authors: heckmann j. Ann Clin Transl Neurol. 2024 Aug 2. doi: 10.1002/acn3.52141. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39095335 Free article.
367 results