JoseRafaelCarloMD

PubMed

• 4 citations
  Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy
  Erik Landfeldt, Joel Iff, E. Henricson, V. Vishwanathan, S. Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, Mar Tulinius, Avital Cnaan, Lauren P. Morge...> ;Value in Health. 2021 Oct 1
• 247 citations
  Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
  Craig M. McDonald, Erik K Henricson, Richard T. Abresch, Tina Duong, Nanette C. Joyce, F. Hu, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, Heather Gordish-Dressman...> ;Lancet. 2017 Nov 22
• 58 citations
  Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
  Luca Bello, Jaya Punetha, Heather Gordish-Dressman, Mamta Giri, Eric P. Hoffman, Andrea Barp, Sara Vianello, Elena Pegoraro, Kevin M. Flanigan, Robert B. Weiss, Pietro...> ;American Journal of Human Genetics. 2016 Nov 3
• 7 citations
  A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
  Samiah Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q. Rosales, A.M. Gomez, Sarah Lewis, Sayaka Hashimoto, Julie M. Gastier-Foster, Peter B. Kang, Basil T. Darras, Lo...> ;Molecular Genetics & Genomic Medicine. 2015 Mar 1
• 64 citations
  CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy
  Diana M. Escolar, Gunnar Buyse, Erik K Henricson, Robert T. Leshner, Julaine Florence, J. Mayhew, Carolina Tesi-Rocha, Ksenija Gorni, Livia Pasquali, Kantilal M. Patel...> ;Annals of Neurology. 2005 Jul 1
• 120 citations
  Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
  Michelangelo Mancuso, Leonardo Salviati, Sabrina Sacconi, David Otaegui, Pilar Camaño, Alberto Marina, S. Bacman, Carlos T. Moraes, Jose Carlo, M Garcia, M. Garcia-Alv...> ;Neurology. 2002 Oct 22
• 62 citations
  Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome
  Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, Kurenai Tanji, Eduardo Bonilla, Carolyn M. Sue, Sindu Krishna, Jose Carlo, Judith P. Willner, Eric A. Sch...> ;American Journal of Human Genetics. 2002 Sep 1
• 79 citations
  Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter
  Michio Hirano, Justo Garcia-de-Yebenes, Alison C. Jones, Ichizo Nishino, Salvatore DiMauro, Jose Carlo, Adam N. Bender, Angelica F. Hahn, Larry M. Salberg, Daniel E. W...> ;American Journal of Human Genetics. 1998 Aug 1
• 6 citations
  Cerebral infarction following herpes zoster: the enlarging clinical spectrum.
  Juan L. Joy, José R. Carlo, Jesús R. Vélez-Borrás> ;Neurology. 1989 Dec 1
• 7 citations
  Autosomal dominant syndrome of lipid neuromyopathy with normal carnitine Successful treatment with long‐chain fatty‐acid‐free diet
  Valerie Askanas, W. King Engel, Helen H. Kwan, N. Bojji Reddy, Taher Husainy, José R. Carlo, Teepu Siddique, Robert J. Schwartzman, Carol J. Hanna> ;Neurology. 1985 Jan 1
• Study of adrenocortical physiology in normal and schizophrenic men.
  HOAGLAND H, PINCUS G, ELMADJIAN F, ROMANOFF L, FREEMAN H, HOPE J, BALLAN J, BERKELEY A, CARLO J> ;AMA Arch Neurol Psychiatry. 1953-04-01
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