M
Melissa Crenshaw
Researcher at Johns Hopkins University
Publications - 6
Citations - 256
Melissa Crenshaw is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Internal medicine & Channelopathy. The author has an hindex of 2, co-authored 2 publications receiving 187 citations.
Papers
More filters
Journal ArticleDOI
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.
Journal ArticleDOI
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Magdalena Koczkowska,Yunjia Chen,Tom Callens,Alicia Gomes,Angela Sharp,Sherrell Johnson,Meng-Chang Hsiao,Zhenbin Chen,Meena Balasubramanian,Christopher P. Barnett,Troy A. Becker,Shay Ben-Shachar,Débora Romeo Bertola,Jaishri O. Blakeley,Emma Burkitt-Wright,Alison Callaway,Melissa Crenshaw,Karin Soares Gonçalves Cunha,Mitch Cunningham,Maria Daniela D'Agostino,Karin Dahan,Alessandro De Luca,Anne Destree,Radhika Dhamija,Marica Eoli,D. Gareth Evans,Patricia Galvin-Parton,Jaya K. George-Abraham,Karen W. Gripp,Jose Guevara-Campos,Neil A. Hanchard,Concepción Hernández-Chico,La Donna Immken,Sandra Janssens,Kristi J. Jones,Beth Keena,Aaina Kochhar,Jan Liebelt,Arelis Martir-Negron,Maurice J. Mahoney,Isabelle Maystadt,Carey McDougall,Meriel McEntagart,Nancy J. Mendelsohn,David T. Miller,Geert Mortier,Jenny Morton,John Pappas,Scott R. Plotkin,Dinel A. Pond,Kenneth N. Rosenbaum,Karol Rubin,Laura Russell,Lane S. Rutledge,Veronica Saletti,Rhonda L. Schonberg,Allison Schreiber,Meredith Seidel,Elizabeth Siqveland,David W. Stockton,Eva Trevisson,Nicole J. Ullrich,Meena Upadhyaya,Rick van Minkelen,Helene Verhelst,Margaret R. Wallace,Yoon Sim Yap,Elaine H. Zackai,Jonathan Zonana,Vickie Zurcher,Kathleen Claes,Yolanda Martin,Bruce R. Korf,Eric Legius,Ludwine Messiaen +74 more
TL;DR: The results demonstrate that a genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals.
Journal ArticleDOI
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine
R Wyrebek,Mara E. DiBartolomeo,Sandra Brooks,Thomas J. Geller,Melissa Crenshaw,Stanley J.P. Iyadurai +5 more
TL;DR: In this paper , the authors describe the hospital course, diagnostic evaluations as well as neurologic and neuromuscular follow up of an infant diagnosed with PURA syndrome based on a pathogenic deletion at c.697_699 (phe233del) of the PURA gene identified on whole exome sequencing.
Journal ArticleDOI
Corrigendum to ‘Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine’ Neuromuscular Disorders Volume 32, Issue 2, February 2022, Pages 166-169
R Wyrebek,Mara Di Bartolomeo,Sandra Brooks,Thomas Dr. Chem. Geller,Melissa Crenshaw,Stanley J.P. Iyadurai +5 more
TL;DR: Iyadurai et al. as mentioned in this paper treated a hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine, which can be divided into central and peripheral etiologies.
Journal ArticleDOI
Reader Response: PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
Stanley J.P. Iyadurai,Thomas J. Geller,R Wyrebek,Melissa Crenshaw,Sandra Brooks,Mara E. DiBartolomeo,Magdalena Mroczek +6 more
TL;DR: In this paper , a PURA syndrome patient who benefited from treatment with pyridostigmine was reported to have improved motor performance with the use of salbutamol.