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Grants at a Glance — Winter 2013

  • A fruit fly neuromuscular junction showing synaptic terminals (purple) and mutant TDP43 protein forming puncta, or points, in glial cells (green) surrounding the motor neuron axon (not shown).

    ALS — Daniela Zarnescu, Ph.D.

    Daniela Zarnescu, associate professor of molecular and cellular biology at the University of Arizona in Tucson, was awarded an MDA research grant totaling $405,000 over a period of three years to investigate whether anti-diabetic drugs may reduce the death of muscle-controlling nerve cells called motor neurons in amyotrophic lateral sclerosis (ALS).

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  • Mutant TDP43 fragments readily form aggregates (green) in mammalian cells, which are occasionally surrounded by the ubiquitin adaptor protein p62 (red).

    ALS — Fenghua Hu, Ph.D.

    Fenghua Hu, research scientist at Cornell University in Ithaca, N.Y., was awarded an MDA research grant totaling $360,000 over a period of three years to study the effects of TDP43 gene mutations in a model of amyotrophic lateral sclerosis (ALS).

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  • Cultured motor neurons (in green) and astrocytes (in red) from the spinal cords of ALS transgenic mice.

    ALS — Giovanni Manfredi, M.D., Ph.D.

    Giovanni Manfredi, professor of neurology and neuroscience at Weill Medical College of Cornell University in New York, N.Y., was awarded an MDA research grant totaling $355,317 over a period of three years to study whether calcium imbalance in nervous system support cells called astrocytes contributes to amyotrophic lateral sclerosis (ALS).

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  • In this image of a motor neuron, the bright dots are clumps containing mutant FUS protein.

    ALS — Heather Durham, Ph.D.

    Heather Durham, professor at the Montreal Neurological Institute of McGill University in Quebec, Canada, was awarded an MDA research grant totaling $355,936 over a period of three years to study the consequences of mutations in the FUS gene for muscle-controlling nerve cells called motor neurons.

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  • Jeffrey Rothstein, M.D., Ph.D.

    ALS — Jeffrey Rothstein, M.D., Ph.D.

    Jeffrey Rothstein, professor of neurology and neuroscience at Johns Hopkins University in Baltimore, Md., was awarded an MDA research grant totaling $392,706 over a period of three years to study the most common genetic cause of amyotrophic lateral sclerosis (ALS), using cells derived from patient skin samples.

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  • Li Niu, Ph.D. (second from right)

    ALS — Li Niu, Ph.D.

    Li Niu, professor and chair of chemistry at the State University of New York at Albany, was awarded an MDA research grant totaling $405,000 over a period of three years to develop new drugs as potential therapies for amyotrophic lateral sclerosis (ALS).

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  • Mohamed Farah, Ph.D.

    ALS — Mohamed Farah, Ph.D.

    Mohamed Farah, assistant professor of neurology at Johns Hopkins University School of Medicine in Baltimore, Md., was awarded an MDA research grant totaling $375,000 over a period of three years to test drugs in models of amyotrophic lateral sclerosis (ALS).

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  • Sunitha Rangaraju, Ph.D.

    ALS — Sunitha Rangaraju, Ph.D.

    Sunitha Rangaraju, a postdoctoral research scientist at the Scripps Research Institute in La Jolla, Calif., was awarded an MDA development grant totaling $180,000 over a period of three years to determine whether compounds that slow certain aspects of aging may be therapeutic in amyotrophic lateral sclerosis (ALS).

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  • Xin Wang, Ph.D.

    ALS — Xin Wang, Ph.D.

    Xin Wang, assistant professor of neurosurgery at Harvard Medical School in Boston, Mass., was awarded an MDA research grant totaling $405,000 over a period of three years to identify and test novel drug candidates for amyotrophic lateral sclerosis (ALS).

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  • The peripheral nervous system of the fruit fly Drosophila melanogaster, shown with synaptic vesicle proteins in green and nerve membranes in blue. The green structure at far left is the ventral nerve cord where motor neuron cell bodies reside. The bracket shows the site of crush injury to these nerves. The arrow shows accumulation of synaptic protein proximal to the injury.  Asterisks mark select neuromuscular junctions (NMJs).

    ALS, CMT — Martha Bhattacharya, Ph.D.

    Martha Bhattacharya, a postdoctoral research scholar in developmental biology at Washington University School of Medicine in St. Louis, Mo., was awarded an MDA development grant totaling $180,000 over a period of three years to study how and why axons degenerate.

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  • Benoit Coulombe, Ph.D.

    ALS, IBM — Benoit Coulombe, Ph.D.

    Benoit Coulombe, director of the Proteomics and Gene Transcription Laboratory at the University of Montréal in Quebec, Canada, was awarded an MDA research grant totaling $377,067 over a period of three years to study the regulation of a protein whose gene, when mutated, can cause amyotrophic lateral sclerosis (ALS) and inclusion-body myositis (IBM).

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  • Eric Ross, Ph.D.

    ALS, IBM — Eric Ross, Ph.D.

    Eric Ross, associate professor of biochemistry and molecular biology at Colorado State University in Fort Collins, was awarded an MDA research grant totaling $363,000 over a period of three years to study proteins whose aggregation causes neurodegeneration.

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  • Hong Joo Kim, Ph.D.

    ALS, IBM — Hong Joo Kim, Ph.D.

    Hong Joo Kim, a postdoctoral fellow at St. Jude Children’s Research Hospital in Memphis, Tenn., was awarded an MDA development grant totaling $180,000 over a period of three years to study new genes for a newly recognized disorder called multisystem proteinopathy (MSP).

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  • Linda Baum, M.D., Ph.D.

    BMD, DMD — Linda Baum, M.D., Ph.D.

    Linda Baum, professor and vice chair of pathology and laboratory medicine at the Geffen School of Medicine at the University of California, Los Angeles, was awarded an MDA research grant totaling $405,000 over a period of three years to study molecules on the muscle surface that regulate important aspects of cellular communication and survival.

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  • Sebahattin Cirak, M.D.

    CMD, LGMD — Sebahattin Cirak, M.D.

    Sebahattin Cirak, pending assistant professor at the Children’s National Medical Center in Washington, D.C., was awarded an MDA development grant totaling $180,000 over a period of three years to hunt for elusive genes that cause congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD).

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  • Linhoff is studying fish (whose tanks are shown) with mutations in a gene that causes congenital myasthenic syndrome.

    CMS — Michael Linhoff, Ph.D.

    Michael Linhoff, a postdoctoral fellow at Oregon Health and Science University in Portland, Ore., was awarded an MDA development grant totaling $119,944 over a period of two years to study neuromuscular junction defects in congenital myasthenic syndrome (CMS).

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  • Spinal cords from unaffected mice (left), and mice with a mutation in the NFL gene (right) are stained with anti-NFL antibody and reveal extensive formation of neurofilamentous inclusions in the mutant mice. (Scale bar = 50 micrometers.)

    CMT — Ronald K. Liem, Ph.D.

    Ronald Liem, professor of pathology and cell biology at Columbia University Medical Center in New York, N.Y., was awarded an MDA research grant totaling $318,264 over a period of three years to study the progression of disease in a mouse model of type 2E Charcot-Marie-Tooth (CMT) disease.

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  • HSAN is a rare genetic neuropathy that causes severe numbness, weakness and ulceration of the feet and hands.

    CMT — Vera Fridman, M.D.

    Vera Fridman, at Massachusetts General Hospital in Boston, was awarded an MDA clinical research training grant totaling $180,000 over a period of two years to the effects of Serine in people with a form of Charcot-Marie-Tooth (CMT) disease called hereditary sensory and autonomic neuropathy type 1 (HSAN1).

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  • In this X-ray diffraction image, the pattern of dots can be used to extract information about the size, shape and structure of the MMD2 RNA.

    DM — Matthew Disney, Ph.D.

    Matthew Disney, associate professor of chemistry at The Scripps Research Institute in Jupiter, Fla., was awarded an MDA research grant totaling $362,724 over a period of three years to test the ability of compounds he has developed to target the toxic RNA in myotonic dystrophy type 2 (MMD2, also known as DM2).

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  • Deok-Ho Kim, Ph.D.

    DMD — Deok-Ho Kim, Ph.D.

    Deok-Ho Kim, assistant professor of bioengineering at the University of Washington in Seattle, was awarded an MDA research grant totaling $390,000 over a period of three years to develop better techniques for growing muscle for use in transplantation into a mouse model of Duchenne muscular dystrophy (DMD).

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  • Shown is a section of muscle from a child with Duchenne muscular dystrophy, imaged in different ways. The data show a fingerprint suggestive of asynchronous regeneration in DMD muscle.

    DMD — Eric Hoffman, Ph.D.

    Eric Hoffman, director of the Research Center for Genetic Medicine at Children's National Medical Center in Washington, D.C., was awarded an MDA research grant totaling $321,659 over a period of three years to study whether a process called asynchronous repair contributes to muscle degeneration in Duchenne muscular dystrophy (DMD).

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  • Gordon Lynch, Ph.D.

    DMD — Gordon Lynch, Ph.D.

    Gordon Lynch, head of the department of physiology at The University of Melbourne in Victoria, Australia, was awarded an MDA research grant totaling $405,000 over a period of three years to study the potential of heat shock proteins for treatment of Duchenne muscular dystrophy (DMD). Heat shock proteins help cells fold other proteins properly, and deal with stresses from a variety of sources. The new grant complements previous MDA-funded research by Lynch into strategies aimed at improving muscle function in DMD.

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  • GRAF1 promotes muscle formation in a dish. Immature muscle cells fuse to form multinucleated muscle fibers during formation and repair of muscle, a process aided by GRAF1. Notice that the GRAF1 (red) expressing cell is much larger and has many more nuclei (blue) than control cells (green).

    DMD — Joan Taylor, Ph.D.

    Joan Taylor, associate professor of pathology at the University of North Carolina in Chapel Hill, was awarded an MDA research grant totaling $396,000 over a period of three years to study how muscle cells repair damaged membranes.

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  • Effects of treatment with a compound that increases utrophin production can be seen in these images. On the left are mice before treatment. On the right, mice 1 and 3 have received only placebo, while mice 2 and 4 received the active treatment. An increase in utrophin is indicated by more yellow and red coloration.

    DMD — Kay Davies, M.A., Ph.D.

    Dame Kay Davies, Dr. Lee’s Professor of Anatomy in the department of physiology, anatomy and genetics at the University of Oxford in the United Kingdom, was awarded an MDA research grant totaling $207,566 over a period of two years to conduct a drug screen for molecules that can increase levels of a protein called utrophin, which can be developed for clinical trials in Duchenne muscular dystrophy (DMD).

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  • Madhuri Hegde, Ph.D.

    DMD — Madhuri Hegde, Ph.D.

    Madhuri Hegde, executive director of the genetics laboratory and associate professor of human genetics at Emory University School of Medicine in Atlanta, Ga., was awarded a one-year MDA research grant totaling $84,924 to advance methods for newborn screening (NBS) for Duchenne muscular dystrophy (DMD).

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  • Matthew Alexander, Ph.D.

    DMD — Matthew Alexander, Ph.D.

    Matthew Alexander, a postdoctoral research fellow in genetics and pediatrics at Harvard Medical School in Boston, Mass., was awarded an MDA development grant totaling $180,000 over a period of three years to study the role of microRNAs in Duchenne muscular dystrophy (DMD).

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  • DMD, BMD — Joseph Beavo, Ph.D.

    Joseph Beavo, professor of pharmacology at the University of Washington in Seattle was awarded an MDA research grant totaling $412,500 over a period of three years to study how the drug sildenafil acts to improve the function of heart muscle in animal models of Duchenne muscular dystrophy (DMD).

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  • Radbod Darabi, M.D., Ph.D.

    DMD, General MD — Radbod Darabi, M.D., Ph.D.

    Radbod Darabi, assistant professor of medicine at the University of Minnesota in Minneapolis, was awarded an MDA research grant totaling $380,049 over a period of three years to develop methods to use cells derived from skin to regenerate muscle tissue in a model of Duchenne muscular dystrophy (DMD).

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  • Neurons (nerve cells) containing the Friedreich’s ataxia mutation are shown in this microscope image.

    FA — Marek Napierala, Ph.D.

    Marek Napierala, assistant professor of molecular carcinogenesis at the MD Anderson Cancer Center of the University of Texas, Smithville, was awarded an MDA research grant totaling $320,451 over a period of three years to develop new models of Friedreich’s ataxia (FA) and explore new therapeutic approaches for the disease.

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  • Restoring the frataxin protein to FA mice (as shown in the right panel) increases the numbers of mitochondria (M) and sarcomeres (S) in muscle. (Sarcomeres are part of muscle fiber.) An untreated FA mouse is shown in the middle, and an unaffected mouse on the left.

    FA — Mark Payne, M.D.

    Mark Payne, professor of pediatrics and medical and molecular genetics at the Indiana University School of Medicine in Indianapolis, was awarded an MDA research grant totaling $298,048 over a period of two years to study ways to overcome the vulnerability of heart muscle in Friedreich’s ataxia (FA).

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  • Kyba (right) and colleagues Natalie Schennum (left) and Abhijit Dandapat (middle)

    FSHD — Michael Kyba, Ph.D.

    Michael Kyba, associate professor of pediatrics at the University of Minnesota in Minneapolis, was awarded an MDA research grant totaling $358,227 over a period of three years to study muscle developmental deficits in facioscapulohumeral muscular dystrophy (FSHD). The new grant complements previous MDA-funded work by Kyba to identify and test experimental therapies in FSHD.

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  • Rabi Tawil, M.D.

    FSHD — Rabi Tawil, M.D.

    Rabi Tawil, professor of neurology at the University of Rochester Medical Center in Rochester, N.Y., was awarded a one-year MDA research grant totaling $92,222 to develop a biomarker for facioscapulohumeral muscular dystrophy (FSHD).

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  • Noah Weisleder (left) in his laboratory working with Eric Beck (center) and Jenna Alloush (right) on a fluorescence microscope used to examine muscle cell viability in dystrophic mouse models.

    LGMD — Noah Weisleder, Ph.D.

    Noah Weisleder, associate professor of physiology and cell biology at Ohio State University in Columbus, was awarded an MDA research grant totaling $405,000 over a period of three years to study muscle repair for development of treatment for limb-girdle muscular dystrophies (LGMD).

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  • Mutation of the MYH7 gene causes myosin protein to accumulate in the cytoplasm, as shown here (arrow). The structure of the aggregates resolved by electron microscopy analysis also is shown.

    Laing Distal Myopathy — Leslie Leinwand, Ph.D.

    Leslie Leinwand, professor of molecular, cellular and developmental biology at the University of Colorado in Boulder, was awarded an MDA research grant totaling $338,775 over a period of three years to study the causes and treatment of Laing distal myopathy (MPD1).

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  • Normal neuromuscular junction (synapse) with the nerve side of the synapse stained green and the muscle side stained red. The nerve is directly applied to the muscle portion, which has a delicate pretzel shape.

    MG — David Richman, M.D.

    David Richman, professor of neurology at the University of California, Davis, was awarded an MDA research grant totaling $412,500 over a period of three years to study the anti-MuSK myasthenia (AMM) form of myasthenia gravis (MG).

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  • Muthusamy Thiruppathi, Ph.D.

    MG — Muthusamy Thiruppathi, Ph.D.

    Muthusamy Thiruppathi, a postdoctoral research associate in microbiology and immunology in the College of Medicine at the University of Illinois at Chicago, was awarded an MDA development grant totaling $180,000 over a period of three years to pursue ways to restore normal immune system function in myasthenia gravis (MG).

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  • Socrates Tzartos, Ph.D.

    MG — Socrates Tzartos, Ph.D.

    Socrates Tzartos, professor of biochemistry at the Hellenic Pasteur Institute in Athens, Greece, was awarded an MDA research grant totaling $345,033 over a period of three years to develop diagnostic tools for diagnosis of the low-density lipoprotein receptor-related protein 4 (LRP4) form of myasthenia gravis (MG).

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  • The number of CTG repeat units often grows in each successive generation, as shown here, with disease onset occurring earlier each time.

    MMD — Darren Monckton, Ph.D.

    Darren Monckton, professor of human genetics at the University of Glasgow in Scotland, was awarded an MDA research grant totaling $273,892 over a period of two years to develop new diagnostic tests for myotonic muscular dystrophy type 1 (MMD1, also known as DM1)

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  • Eric Schon, Ph.D.

    Mitochondrial Myopathies — Eric Schon, Ph.D.

    Eric Schon, professor of neurology at the College of Physicians & Surgeons of Columbia University in New York, was awarded an MDA research grant totaling $405,000 over a period of three years to develop strategies for treatment of mitochondrial myopathies.

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  • Masahiro Iwamoto, Ph.D., D.D.S., and team

    Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.

    Masahiro Iwamoto, research scientist at the Children’s Hospital of Philadelphia and associate professor of pediatric orthopedics at the University of Pennsylvania School of Medicine, was awarded an MDA research grant totaling $405,000 over a period of three years to study new ways to reduce muscle degeneration.

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  • Ayan Banerjee, Ph.D.

    OPMD — Ayan Banerjee, Ph.D.

    Ayan Banerjee, a postdoctoral researcher in biochemistry at Emory University in Atlanta, Ga., was awarded an MDA development grant totaling $180,000 over a period of three years to study the protein defects that cause oculopharyngeal muscular dystrophy (OPMD).

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  • Youssof is learning about patients’ perspectives on OPMD and studying outcome measures for incorporation into clinical trials.

    OPMD — Sarah Youssof, M.D.

    Sarah Youssof, at the University of New Mexico Health Sciences Center in Albuquerque, was awarded an MDA clinical research training grant totaling $180,000 over a period of two years to study outcome measures in oculopharyngeal muscular dystrophy (OPMD).

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  • A and B: Side and abdominal views of a mouse walking on a transparent treadmill belt. C: A digital image of paw prints from a walking mouse that is used to calculate 27 indicators of gait. Each paw is shown in a different color for ease of viewing.

    SMA — Christine DiDonato, Ph.D.

    Christine DiDonato, assistant professor of pediatrics at Northwestern University in Chicago, Ill., was awarded an MDA research grant totaling $405,000 over a period of three years to test treatment strategies for spinal muscular atrophy (SMA).

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  • Gary Bassell, Ph.D.

    SMA — Gary Bassell, Ph.D.

    Gary Bassell, professor of cell biology and neurology at the Emory University School of Medicine in Atlanta, Ga., was awarded an MDA research grant totaling $405,000 over a period of three years to discover new functions of the SMN protein in spinal muscular atrophy (SMA).

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  • John Manfredi, Ph.D.

    SMA — John Manfredi, Ph.D.

    John Manfredi, chief scientific officer at Sfida BioLogic in Salt Lake City, Utah, was awarded an MDA research grant totaling $161,995 over a period of two years to study the potential of new compounds for treatment of spinal muscular atrophy (SMA). The new grant complements previous MDA-funded research by Manfredi into potential therapeutics for SMA.

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On Feb. 1, 2013, funding began for 44 MDA grants targeting 16 specific neuromuscular diseases, as well as research with implications for many of the diseases in MDA's program. The newly funded grants are part of the more than 250 research projects currently supported by MDA.

For an overview of grants awarded by MDA in February 2013, see:

  • $13.6 Million in New MDA Grants Promote Understanding, Treatment of Neuromuscular Diseases
  • Grants Support Study of New Genes, New Drug Discovery Strategies for ALS
ALS — Daniela Zarnescu, Ph.D. ›

Grants at a Glance

Summer 2012
Winter 2012
Summer 2011
Winter 2011
Summer 2010

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    • Volume 1, Issue 1, October 2011
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Grants at a Glance — Winter 2013

  • ALS — Daniela Zarnescu, Ph.D.
  • ALS — Fenghua Hu, Ph.D.
  • ALS — Giovanni Manfredi, M.D., Ph.D.
  • ALS — Heather Durham, Ph.D.
  • ALS — Jeffrey Rothstein, M.D., Ph.D.
  • ALS — Li Niu, Ph.D.
  • ALS — Mohamed Farah, Ph.D.
  • ALS — Sunitha Rangaraju, Ph.D.
  • ALS — Xin Wang, Ph.D.
  • ALS, CMT — Martha Bhattacharya, Ph.D.
  • ALS, IBM — Benoit Coulombe, Ph.D.
  • ALS, IBM — Eric Ross, Ph.D.
  • ALS, IBM — Hong Joo Kim, Ph.D.
  • BMD, DMD — Linda Baum, M.D., Ph.D.
  • CMD, LGMD — Sebahattin Cirak, M.D.
  • CMS — Michael Linhoff, Ph.D.
  • CMT — Ronald K. Liem, Ph.D.
  • CMT — Vera Fridman, M.D.
  • DM — Matthew Disney, Ph.D.
  • DMD — Deok-Ho Kim, Ph.D.
  • DMD — Eric Hoffman, Ph.D.
  • DMD — Gordon Lynch, Ph.D.
  • DMD — Joan Taylor, Ph.D.
  • DMD — Kay Davies, M.A., Ph.D.
  • DMD — Madhuri Hegde, Ph.D.
  • DMD — Matthew Alexander, Ph.D.
  • DMD, BMD — Joseph Beavo, Ph.D.
  • DMD, General MD — Radbod Darabi, M.D., Ph.D.
  • FA — Marek Napierala, Ph.D.
  • FA — Mark Payne, M.D.
  • FSHD — Michael Kyba, Ph.D.
  • FSHD — Rabi Tawil, M.D.
  • LGMD — Noah Weisleder, Ph.D.
  • Laing Distal Myopathy — Leslie Leinwand, Ph.D.
  • MG — David Richman, M.D.
  • MG — Muthusamy Thiruppathi, Ph.D.
  • MG — Socrates Tzartos, Ph.D.
  • MMD — Darren Monckton, Ph.D.
  • Mitochondrial Myopathies — Eric Schon, Ph.D.
  • Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.
  • OPMD — Ayan Banerjee, Ph.D.
  • OPMD — Sarah Youssof, M.D.
  • SMA — Christine DiDonato, Ph.D.
  • SMA — Gary Bassell, Ph.D.
  • SMA — John Manfredi, Ph.D.
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