Skip to Main Content

Author Details

Millie Young
2015
11
7
PMIDPaper TitleJournal TitlePublished Year
37632133WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.Ann Clin Transl Neurol2023
34606118Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.Muscle and Nerve2022
35300601Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.BMC Cardiovasc Disord2022
33069577Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.Molecular Genetics and Metabolism2020
31553814Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.Hepatology2020
30691927Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.Molecular Genetics and Metabolism2019
30134351Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.Journal of Pediatric Orthopaedics2018
28726809Genomic diagnostics within a medically underserved population: efficacy and implications.Genet Med2018
30188899Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PLoS ONE2018
29173298Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.J Pediatr2017
26079780Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.Journal of Clinical Endocrinology and Metabolism2015
  • 1 - 11 of 11

Recommended Authors

Collaborators

Kevin A Strauss
Co-authored papers 11
Karlla W Brigatti
Co-authored papers 9
Erik G Puffenberger
Co-authored papers 8
Vincent J Carson
Co-authored papers 7
Donna L Robinson
Co-authored papers 7
Lauren E Bowser
Co-authored papers 5
Christine Hendrickson
Co-authored papers 5
Devyani Chowdhury
Nemours AI Dupont Children's Hospital
Co-authored papers 3
Adam D Heaps
Co-authored papers 2
Alan R Shuldiner
University of Maryland School of Medicine
Co-authored papers 2
Teresa Moser
Co-authored papers 1
Portia A Kreiger
Co-authored papers 1
Aris Baras
Co-authored papers 1
Kyle Soltys
Co-authored papers 1
Patrick J McKiernan
Children's Hospital of Pittsburgh
Co-authored papers 1
Zineb Ammous
Co-authored papers 1
George V Mazariegos
Co-authored papers 1
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 1
Michael Tiemeyer
Co-authored papers 1
James Deline
Co-authored papers 1
Cristopher V Van Hout
Co-authored papers 1
John D Overton
Regeneron Pharmaceuticals
Co-authored papers 1
Jonathan Salvin
Co-authored papers 1
James E Squires
UPMC Children's Hospital of Pittsburgh.
Co-authored papers 1
Thierry Morlet
Co-authored papers 1
Jeffrey G Reid
Regeneron Pharmaceuticals, Inc.
Co-authored papers 1
Kazuhiro Aoki
Co-authored papers 1
Steven Gottlieb
Co-authored papers 1
Ethan M Scott
Co-authored papers 1
Frederick E Dewey
Co-authored papers 1
Release 1.2