Hanna Mandel

Best Publications

• Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

  Ann Saada;Avraham Shaag;Hanna Mandel;Yoram Nevo

  699
  Citations

• A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

  Priya S. Kishnani;Wuh-Liang Hwu;Hanna Mandel;Marc Nicolino

  652
  Citations

• The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

  Hanna Mandel;Raymonde Szargel;Valentina Labay;Orly Elpeleg

  640
  Citations

• Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

  Priya S. Kishnani;Paula C. Goldenberg;Stephanie L. Dearmey;James Heller

  434
  Citations

• Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

  Johannes Häberle;Alberto Burlina;Anupam Chakrapani;Marjorie Dixon

  363
  Citations

• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

  P Gissen;P Gissen;C A Johnson;N Morgan;J M Stapelbroek

  359
  Citations

• Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

  Marc Nicolino;Barry Byrne;J. E. Wraith;Nancy Leslie

  347
  Citations

• Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

  Valentina Labay;Tal Raz;Dana Baron;Hanna Mandel

  311
  Citations

• Early Treatment with Alglucosidase Alfa Prolongs Long Term Survival of Infants with Pompe Disease

  Priya S. Kishnani;Deya Corzo;Nancy D. Leslie;Daniel Gruskin

  268
  Citations

• SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

  Hannah Mandel;Revital Shemer;Revital Shemer;Zvi U. Borochowitz;Marina Okopnik

  264
  Citations

• Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

  Avraham Zeharia;Avraham Shaag;Orit Pappo;Anne-Marie Mager-Heckel

  257
  Citations

• Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

  Daniella Magen;Costa Georgopoulos;Peter Bross;Debbie Ang

  253
  Citations

• A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

  Eli Sprecher;Akemi Ishida-Yamamoto;Mordechai Mizrahi-Koren;Debora Rapaport

  247
  Citations

• Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

  Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari

  237
  Citations

• Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

  Loeffen J;Elpeleg O;Smeitink J;Smeets R

  226
  Citations

• Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

  B. Winchester;D. Bali;O.A. Bodamer;C. Caillaud

  205
  Citations

• Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.

  C Zeidler;K Welte;Y Barak;F Barriga

  187
  Citations

• Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

  Andrew R Cullinane;Anna Straatman-Iwanowska;Andreas Zaucker;Yoshiyuki Wakabayashi

  183
  Citations

• Clinical presentation and outcome in a series of 88 patients with the cblC defect

  Sabine Fischer;Martina Huemer;Matthias Baumgartner;Federica Deodato

  175
  Citations

• Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

  Stephan M. Tanner;Maria Aminoff;Fred A. Wright;Sandya Liyanarachchi

  165
  Citations