H. Vogel

发表

Proteinuria and Perinatal Lethality in Mice Lacking NEPH1, a Novel Protein with Homology to NEPHRIN

R. Ramirez-Solis, C. A. Montgomery, D. Powell, 2001, Molecular and Cellular Biology.

Dach1 Mutant Mice Bear No Gross Abnormalities in Eye, Limb, and Brain Development and Exhibit Postnatal Lethality

G. Mardon, A. Beaudet, R. Maas, 2001, Molecular and Cellular Biology.

Altered MICOS Morphology and Mitochondrial Ion Homeostasis Contribute to Poly(GR) Toxicity Associated with C9-ALS/FTD

A. Mattarei, D. De Stefani, Fen-Biao Gao, 2020, Cell reports.

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings

S. Haeri, M. S. van der Knaap, H. Vogel, 2017, Journal of child neurology.

The failure to establish midline body pattern and left-right asymmetry properly is an important cause of congenital malformations. These defects are associated with considerable morbidity and mortality secondary to complex congenital heart defects (CHD), immune dysfunction caused by abnormalities

J. Belmont, M. Gebbia, J. Deng, 2002 .

Pink1 regulates mitochondrial dynamics through interaction with the fission/fusion machinery

M. Beal, Lichuan Yang, B. Lu, 2008, Proceedings of the National Academy of Sciences.

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

V. Stefans, Julia Wang, A. El-Hattab, 2018, Molecular genetics and metabolism.

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

G. Enns, L. Wong, G. Vladutiu, 2003, Journal of medical genetics.

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome

S. Luo, I. Khrebtukova, G. Schroth, 2013, American journal of medical genetics. Part A.

Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome

D. M. Martin, Chieh-Yu Lin, Chien-Jung Lin, 2014, Nature.

Transcriptional Profiling of Aging in Human Muscle Reveals a Common Aging Signature

Kevin G Becker, Art B Owen, A. Owen, 2006, PLoS genetics.

Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice.

M. Matzuk, Naifang Lu, L. Dionne, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Jason D. Buenrostro, K. Flanigan, A. Gitler, 2014, Neuromuscular Disorders.

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

J. Higgins, G. Enns, A. Niemi, 2014, Ultrastructural pathology.

AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin

I. Graef, I. Wilson, M. Liedtke, 2013, Proceedings of the National Academy of Sciences.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

U. Francke, A. Oviedo, B. Schüle, 2008, Clinical genetics.

Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin.

M. Beal, Lichuan Yang, B. Lu, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

S. Tanner, R. Barohn, J. Katz, 2005, Neurology.

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

F. Scaglia, L. Wong, G. Vladutiu, 2003, American journal of medical genetics. Part A.

Long-term liver disease in methylmalonic and propionic acidemias.

A. Imbard, G. Touati, A. Slama, 2018, Molecular genetics and metabolism.

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

G. Enns, L. Wong, B. Mobley, 2009, Clinical neuropathology.

Reactive oxygen species act remotely to cause synapse loss in a Drosophila model of developmental mitochondrial encephalopathy

H. Vogel, K. M. Tomalty, T. R. Clandinin, 2008, Development.

Exome sequencing identifies a DNAJB 6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Jason D. Buenrostro, K. Flanigan, A. Gitler, 2014 .

Mitochondrial Myopathies and the Role of the Pathologist in the Molecular Era

H. Vogel, 2001, Journal of neuropathology and experimental neurology.

Quality-control mechanisms targeting translationally stalled and C-terminally extended poly(GR) associated with ALS/FTD

S. Glynn, M. Snyder, B. Lu, 2020, Proceedings of the National Academy of Sciences.

Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria

R. Naviaux, V. Sutton, F. Scaglia, 2001, Journal of child neurology.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

A. Gitler, C. Siskind, J. Day, 2014, Brain Research.

Deletion of Ku86 causes early onset of senescence in mice.

H. Vogel, P. Hasty, D. Lim, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11.

A. Bradley, H. Vogel, H. Vogel, 1998, Genetics.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

L. Shaffer, J. Badano, Yuan-qing Wu, 2000, American journal of human genetics.