Publications by authors named "Melissa A Walker"

15Publications

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

N Engl J Med 2020 10 12;383(16):1556-1563. Epub 2020 Aug 12.

From the Departments of Molecular Biology (M.A.W., V.K.M.), Neurology (M.A.W.), and Medicine (V.K.M) and the Genetics Unit, Department of Pediatrics (A.K.), Massachusetts General Hospital, Howard Hughes Medical Institute (M.A.W., A.R., V.K.M.), the Division of Hematology-Oncology, Boston Children's Hospital (C.A.L., L.S.L., V.G.S.), the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (C.A.L., L.S.L., V.G.S.), the Department of Systems Biology, Harvard Medical School (V.K.M.), and Harvard Medical School (M.A.W., A.K.), Boston, and the Klarman Cell Observatory (L.S.L., A.R.), Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard (M.A.W., C.A.L., V.G.S., V.K.M.), the Harvard Stem Cell Institute (V.G.S.), and the Department of Biology and Koch Institute of Integrative Cancer Research, Massachusetts Institute of Technology (A.R.), Cambridge - both in Massachusetts.

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http://dx.doi.org/10.1056/NEJMoa2001265DOI Listing
October 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Am J Med Genet A 2019 08 5;179(8):1575-1579. Epub 2019 Jun 5.

Pediatric Neurology Unit, Holon, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61196DOI Listing
August 2019

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Mol Genet Metab 2018 09 15;125(1-2):118-126. Epub 2018 Jun 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183011
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http://dx.doi.org/10.1016/j.ymgme.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557438PMC
September 2018

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

J Child Neurol 2016 08 19;31(9):1127-37. Epub 2016 Apr 19.

Department of Neurology, Division of Child Neurology, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816643402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981184PMC
August 2016

Hearing loss in Wernicke encephalopathy.

Neurol Clin Pract 2014 Dec;4(6):511-515

Department of Neurology, Massachusetts General Hospital, Brigham and Women's Hospital, Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/CPJ.0000000000000072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759994PMC
December 2014

Powering the immune system: mitochondria in immune function and deficiency.

J Immunol Res 2014 21;2014:164309. Epub 2014 Sep 21.

Novartis Institute for Research in Biomedicine, Basel, Switzerland.

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http://dx.doi.org/10.1155/2014/164309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189529PMC
June 2015

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.

J Allergy Clin Immunol Pract 2014 Jul-Aug;2(4):465-468, 468.e1. Epub 2014 Apr 13.

Division of Allergy and Immunology, Department of Pediatrics, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2014.02.009DOI Listing
April 2015

Medicaid fee for service reimbursement and the delivery of human services for individuals with developmental disabilities or severe mental illness: negotiating cost.

J Health Hum Serv Adm 2010 ;32(4):380-404

Hugo Wall School of Urban and Public Affairs, Wichita State University, USA.

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June 2010

Program characteristics and the length of time clients are in substance abuse treatment.

Authors:
Melissa A Walker

J Behav Health Serv Res 2009 Jul 27;36(3):330-43. Epub 2008 Jun 27.

Hugo Wall School of Urban and Public Affairs, Wichita State University, 1845 Fairmount Street, Wichita, KS 67260-0155, USA.

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http://dx.doi.org/10.1007/s11414-008-9128-0DOI Listing
July 2009

Spatiotemporal evolution of functional hemodynamic changes and their relationship to neuronal activity.

J Cereb Blood Flow Metab 2005 Jul;25(7):830-41

Laboratory of Neuro Imaging, Department of Neurology, David Geffen School of Medicine at UCLA, 90024, USA.

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http://dx.doi.org/10.1038/sj.jcbfm.9600091DOI Listing
July 2005

Ligand-induced conformational shift in the N-terminal domain of GRP94, an Hsp90 chaperone.

J Biol Chem 2004 Oct 2;279(44):46162-71. Epub 2004 Aug 2.

Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://www.jbc.org/content/279/44/46162.full.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M405253200
Publisher Site
http://dx.doi.org/10.1074/jbc.M405253200DOI Listing
October 2004