Search

Your search keyword '"Kevin Boylan"' showing total 25 results
Start Over Author "Kevin Boylan" Topic neurology (clinical)
25 results on '"Kevin Boylan"'

1. ALSUntangled No. 36: Accilion

Author

Gary L. Pattee, Muddasir Quereshi, Paul Wicks, Todd Levine, Chafic Karam, Edor Kabashi, Christen Shoesmith, Jonathan Goldstein, John T. Kissel, Jim Wymer, Fernando G. Vieira, Pamela Kittrell, Carmel Armon, Josep Gamez, Laurie Gutmann, Lisa Kinsley, Gleb Levitsky, Katherine Tindall, Janice Robertson, Yunxia Wang, Emma Fixsen, Carlayne E. Jackson, Stacy A. Rudnicki, Michael Benatar, Robert Bowser, Robin Conwit, Michael J. Strong, Bjorn Oskarsson, Rob Goldstein, Eric J. Sorenson, Alexander Sherman, Neta Zach, Kathy Mitchell, Peter M Andersen, Ahmad Ghavanini, Kristiana Salmon, Richard Bedlack, Nicholas J. Maragakis, Bonnie Gerecke, Jeffrey D. Rothstein, Leo McClusky, Paul E. Barkhaus, Efrat Carmi, Ginna Gonzalez, Jonathan Licht, Steve Perrin, Hiroshi Mitsumoto, Brett M. Morrison, Meraida Polak, Melanie Leitner, Tahseen Mozaffar, Lyle Ostrow, Orla Hardiman, Lorne Zinman, Daniel M. Pastula, Michael H. Rivner, Mazen M. Dimachkie, Steven Nash, Megan Grosso, Ashok Verma, James Heywood, Vivian E. Drory, Erik P. Pioro, Larry Phillips, Gregory T. Carter, Michael D. Weiss, Nazem Atassi, Jeffrey V. Rosenfeld, Khema Sharma, Yvonne Baker, Jon Baker, Christina Fournier, Kevin Boylan, Mark Bromberg, Tulio E. Bertorini, L. P. Rowland, Eric Valor, Sith Sathornsumetee, Rup Tandan, Colin Quinn, Jeremy M. Shefner, James A. Russell, Steve Kolb, Steven Novella, James Caress, Robert G. Miller, Mieko Ogino, George Sachs, Jonathan D. Glass, David Saperstein, Dan Moore, John Ravits, Terry Heiman-Patterson, Dallas Forshew, Catherine Lomen-Hoerth, Daniel MacGowan, Kate Dalton, Merit Cudkowicz, and Noah Lechtzin

Subjects
Risk, 0301 basic medicine, Clinical Trials as Topic, Pathology, medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, 03 medical and health sciences, Treatment Outcome, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Animals, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery
Published
2016
Full Text
View/download PDF

2. Familial Amyotrophic Lateral Sclerosis

Author

Kevin Boylan

Subjects
Mutation, medicine.diagnostic_test, business.industry, Bioinformatics, medicine.disease, medicine.disease_cause, Phenotype, C9orf72 Protein, Pathogenesis, Genetic engineering, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, Neuroscience, Gene, Genetic testing
Abstract

Genes linked to amyotrophic lateral sclerosis (ALS) susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis seem to exert major effects in about 10% of patients, but genetic factors at some level may be important components of disease risk in most patients with ALS. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes.

Published
2015
Full Text
View/download PDF

3. ALSUntangled No. 35: Hyperbaric Oxygen Therapy*

Author

Lisa Kinsley, Christen Shoesmith, Steven Nash, Peter M Andersen, John T. Kissel, Daniel M. Pastula, Josep Gamez, Nicholas J. Maragakis, Michael H. Rivner, Michael D. Weiss, Jeffrey V. Rosenfeld, James A. Russell, Kathy Mitchell, Steve Kolb, Melanie Leitner, Jim Wymer, Larry Phillips, Jon Baker, Jeffrey D. Rothstein, Erik P. Pioro, Katherine Tindall, Khema Sharma, Stacy A. Rudnicki, Jonathan D. Glass, James Caress, Janice Robertson, Meraida Polak, Tulio E. Bertorini, Paul Wicks, Yunxia Wang, Carlayne E. Jackson, L. P. Rowland, Megan Grosso, Bjorn Oskarsson, Carmel Armon, Leo McClusky, David Saperstein, Lorne Zinman, Laurie Gutmann, Gregory T. Carter, Robert Bowser, Gary L. Pattee, Kristiana Salmon, Brett M. Morrison, Richard Bedlack, Fernando G. Vieira, Orla Hardiman, Edor Kabashi, Sith Sathornsumetee, Vivian E. Drory, Jeremy M. Shefner, Emma Fixsen, Robert G. Miller, Steve Perrin, Michael Benatar, Hiroshi Mitsumoto, Alexander Sherman, Colin Quinn, Todd Levine, Neta Zach, Christina Fournier, Jonathan Goldstein, Lyle Ostrow, Mark Bromberg, Terry Heiman-Patterson, Dallas Forshew, Steven Novella, Mieko Ogino, George Sachs, John Ravits, Dan Moore, James Heywood, Merit Cudkowicz, Noah Lechtzin, Catherine Lomen-Hoerth, Daniel MacGowan, Kate Dalton, Ashok Verma, Yvonne Baker, Muddasir Quereshi, Kevin Boylan, Pamela Kittrell, Gleb Levitsky, Eric J. Sorenson, Robin Conwit, Rob Goldstein, Eric Valor, Rup Tandan, Nazem Atassi, Ahmad Ghavanini, Paul E. Barkhaus, Ginna Gonzalez, Efrat Carmi, Tahseen Mozaffar, Chafic Karam, Mazen M. Dimachkie, Michael J. Strong, Jonathan Licht, and Bonnie Gerecke

Subjects
Complementary Therapies, Male, 0301 basic medicine, Mice, Mice, Neurologic Mutants, 03 medical and health sciences, Clinical Trials, Phase II as Topic, 0302 clinical medicine, Hyperbaric oxygen, Animals, Humans, Medicine, Single-Blind Method, Amyotrophic lateral sclerosis, Hyperbaric Oxygenation, Clinical Trials, Phase I as Topic, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Disease Models, Animal, Oxidative Stress, Treatment Outcome, 030104 developmental biology, Neurology, Anesthesia, Neurology (clinical), business, 030217 neurology & neurosurgery
Published
2016
Full Text
View/download PDF

4. ALSUntangled: Introducing The Table of Evidence

Author

Hubert Kwieciński, Dan Moore, Gary L. Pattee, Edor Kabashi, Chafic Karam, James Caress, Ashok Verma, Brett M. Morrison, Mieko Ogino, George Sachs, Orla Hardiman, Bonnie Gerecke, Vivian E. Drory, Hiroshi Mitsumoto, Gleb Levitsky, Josep Gamez, James Heywood, Nazem Atassi, Michael D. Weiss, Jeffrey V. Rosenfeld, Colin Quinn, Kathy Mitchell, Robin Conwit, Steven Novella, Mark B. Bromberg, Lewis P. Rowland, Jerry M. Belsh, Michael J. Strong, Todd Levine, Jonathan D. Glass, Yunxia Wang, Carlayne E. Jackson, Jon Baker, Muddasir Quereshi, Melanie Leitner, David Saperstein, Carmel Armon, Leo McClusky, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, Laurie Gutmann, Pamela Kittrell, Jonathan Goldstein, Khema Sharma, Alexander Sherman, Efrat Carmi, Tahseen Mozaffar, James A. Russell, Merit Cudkowicz, Meraida Polak, Lorne Zinman, Michael Benatar, Jim Wymer, Christina Fournier, Noah Lechtzin, Eric Valor, Mazen M. Dimachkie, Steve Kolb, Megan Grosso, Katherine Tindall, Gregory T. Carter, Stacy A. Rudnicki, Lyle Ostrow, Eric J. Sorenson, Jeffrey D. Rothstein, Robert Bowser, Bjorn Oskarsson, Rup Tandan, Catherine Lomen-Hoerth, Daniel MacGowan, Peter M Andersen, Kate Dalton, Daniel M. Pastula, Craig Oster, Paul Wicks, Richard Bedlack, Michael H. Rivner, Nicholas J. Maragakis, John Ravits, Erik P. Pioro, Christen Shoesmith, John T. Kissel, Tulio E. Bertorini, Jeremy M. Shefner, Paul E. Barkhaus, Kevin Boylan, Jeff Dietz, Ginna Gonzalez, Sith Sathornsumetee, Larry Phillips, Steven Nash, Robert G. Miller, Janice Robertson, and Lisa Kinsley

Subjects
PubMed, medicine.medical_specialty, Evidence-Based Medicine, Physical medicine and rehabilitation, Neurology, business.industry, Amyotrophic Lateral Sclerosis, Humans, Medicine, Table (landform), Neurology (clinical), business
Published
2014
Full Text
View/download PDF

5. ALSUntangled No. 29: MitoQ

Author

Muddasir Quereshi, Bjorn Oskarsson, Peter M Andersen, Pamela Kittrell, Mark B. Bromberg, Gleb Levitsky, Richard Bedlack, Nicholas J. Maragakis, Leo McClusky, Michael J. Strong, Robin Conwit, Lewis P. Rowland, Efrat Carmi, Tahseen Mozaffar, Alexander Sherman, Mazen M. Dimachkie, Yunxia Wang, Megan Grosso, Brett M. Morrison, Carlayne E. Jackson, Eric J. Sorenson, Craig Oster, John Ravits, Meraida Polak, Orla Hardiman, Hubert Kwieciński, Terry Heiman-Patterson, Dallas Forshew, Christina Fournier, Jonathan Licht, Dan Moore, Carmel Armon, Gregory T. Carter, Gary L. Pattee, James Heywood, Katherine Tindall, Stacy A. Rudnicki, Edor Kabashi, Laurie Gutmann, Jonathan D. Glass, David Saperstein, Chafic Karam, Kevin Boylan, Daniel M. Pastula, Lorne Zinman, Lisa Kinsley, Eric Valor, Michael H. Rivner, Kathy Mitchell, Neta Zach, James A. Russell, Vivian E. Drory, Melanie Leitner, James Caress, Khema Sharma, Rup Tandan, Colin Quinn, Steven Novella, Ashok Verma, Larry Phillips, Catherine Lomen-Hoerth, Daniel MacGowan, Jim Wymer, Michael Benatar, Kate Dalton, Steve Kolb, Michael D. Weiss, Jeffrey V. Rosenfeld, Nazem Atassi, Robert Bowser, Jon Baker, Merit Cudkowicz, Noah Lechtzin, Jeffrey D. Rothstein, Paul Wicks, Steven Nash, Christen Shoesmith, John T. Kissel, Josep Gamez, Bonnie Gerecke, Hiroshi Mitsumoto, Janice Robertson, Paul E. Barkhaus, Ginna Gonzalez, Mieko Ogino, George Sachs, Todd Levine, Jonathan Goldstein, Jeremy M. Shefner, Tulio E. Bertorini, Robert G. Miller, Sith Sathornsumetee, Lyle Ostrow, Erik P. Pioro, and Jeff Dietz

Subjects
Pathology, medicine.medical_specialty, Ubiquinone, business.industry, Amyotrophic Lateral Sclerosis, Drug Evaluation, Preclinical, medicine.disease, Antioxidants, Disease Models, Animal, Oxidative Stress, Organophosphorus Compounds, Neurology, Animals, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business
Published
2015
Full Text
View/download PDF

6. ALSUntangled 38: L-serine

Author

John Ravits, Jonathan D. Glass, David Saperstein, Ahmad Ghavanini, Erik P. Pioro, Efrat Carmi, Tahseen Mozaffar, Bjorn Oskarsson, Steven Nash, Kristiana Salmon, Richard Bedlack, Christina Fournier, Muddasir Quereshi, Pamela Kittrell, Eric J. Sorenson, Michael Benatar, Todd Levine, Jim Wymer, Carmel Armon, Laurie Gutmann, Jonathan Goldstein, Peter M Andersen, Michael D. Weiss, Lisa Kinsley, Paul Wicks, Jeffrey V. Rosenfeld, Ceri Weber, Ashok Verma, Nazem Atassi, Robert G. Miller, Robert Bowser, Josep Gamez, Bonnie Gerecke, Nicholas J. Maragakis, Brett M. Morrison, Megan Grosso, Gary L. Pattee, Orla Hardiman, Janice Robertson, Jon Baker, Edor Kabashi, Gregory T. Carter, Vivian E. Drory, Neta Zach, Merit Cudkowicz, Noah Lechtzin, Colin Quinn, Catherine Lomen-Hoerth, Daniel MacGowan, Terry Heiman-Patterson, Dallas Forshew, Eric Valour, Kate Dalton, Jeremy M. Shefner, James Heywood, Gleb Levitsky, Alexander Sherman, Robin Conwit, Rob Goldstein, Michael J. Strong, Katherine Tindall, Jeffrey D. Rothstein, Stacy A. Rudnicki, James A. Russell, Steve Kolb, Jonathan Licht, Chafic Karam, Steve Perrin, Hiroshi Mitsumoto, Lyle Ostrow, Leo McClusky, Yunxia Wang, Carlayne E. Jackson, Daniel M. Pastula, Michael H. Rivner, Larry Phillips, Rup Tandan, Paul E. Barkhaus, Ginna Gonzalez, Tulio E. Bertorini, L. P. Rowland, Yvonne Baker, Sith Sathornsumetee, Kevin Boylan, Mark Bromberg, Dan Moore, Fernando G. Vieira, Kathy Mitchell, Melanie Leitner, Mazen M. Dimachkie, James Caress, Meraida Polak, Lorne Zinman, Veronica Peschansky, Christen Shoesmith, John T. Kissel, Khema Sharma, Steven Novella, Emma Fixen, Keeli Hope Denson, Mieko Ogino, and George Sachs

Subjects
0301 basic medicine, Risk, Clinical Trials as Topic, Amyotrophic Lateral Sclerosis, L serine, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Treatment Outcome, Neurology, medicine, Serine, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, 030217 neurology & neurosurgery
Published
2016

7. ALSUntangled No. 37: Inosine

Author

Tulio E. Bertorini, L. P. Rowland, Paul Wicks, Steven Novella, Mark Bromberg, Sith Sathornsumetee, Lyle Ostrow, John Ravits, Sabrina Paganoni, Ginna Gonzalez, Edor Kabashi, Jonathan D. Glass, Josep Gamez, Tahseen Mozaffar, Robin Conwit, Richard Bedlack, Mazen M. Dimachkie, Michael Benatar, Eric J. Sorenson, Emma Fixsen, Yunxia Wang, Steve Kolb, Carlayne E. Jackson, James Caress, James Heywood, Nazem Atassi, Megan Grosso, Chafic Karam, Gregory T. Carter, Kevin Boylan, Orla Hardiman, Steven Nash, Kathy Mitchell, Dan Moore, Carmel Armon, Terry Heiman-Patterson, Dallas Forshew, Laurie Gutmann, Erik P. Pioro, Lisa Kinsley, Colin Quinn, Alexander Sherman, Janice Robertson, Kate Dalton, Larry Phillips, Peter M Andersen, Nicholas J. Maragakis, Katherine Tindall, Jon Baker, and Christen Shoesmith

Subjects
0301 basic medicine, Risk, Clinical Trials as Topic, business.industry, Amyotrophic Lateral Sclerosis, Pharmacology, medicine.disease, Inosine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Treatment Outcome, Neurology, Medicine, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, medicine.drug
Published
2016

8. ALSUntangled No. 34: GM604

Author

Yvonne Baker, Alexander Sherman, Gary L. Pattee, Kevin Boylan, Edor Kabashi, Yunxia Wang, Craig Oster, John Ravits, Muddasir Quereshi, Carlayne E. Jackson, Christen Shoesmith, John T. Kissel, Pamela Kittrell, James Heywood, Mieko Ogino, Gleb Levitsky, Bonnie Gerecke, Bjorn Oskarsson, George Sachs, Eric Valor, Kristiana Salmon, Richard Bedlack, Neta Zach, Robin Conwit, Rob Goldstein, Ahmad Ghavanini, Rup Tandan, Fernando G. Vieira, Efrat Carmi, Janice Robertson, Katherine Tindall, James Caress, Megan Grosso, Eric J. Sorenson, Daniel M. Pastula, Michael H. Rivner, Jeffrey D. Rothstein, Stacy A. Rudnicki, Erik P. Pioro, Terry Heiman-Patterson, Dallas Forshew, Lisa Kinsley, Ashok Verma, Paul E. Barkhaus, Ginna Gonzalez, Larry Phillips, Leo McClusky, Jonathan D. Glass, Brett M. Morrison, David Saperstein, Jim Wymer, Jeff Dietz, Catherine Lomen-Hoerth, Tahseen Mozaffar, Gregory T. Carter, Orla Hardiman, Josep Gamez, Vivian E. Drory, Daniel MacGowan, Dan Moore, Colin Quinn, Chafic Karam, Kate Dalton, Tulio E. Bertorini, Nazem Atassi, Robert G. Miller, Peter M Andersen, Robert Bowser, Michael D. Weiss, L. P. Rowland, Michael J. Strong, Jeffrey V. Rosenfeld, Steven Novella, Nicholas J. Maragakis, Michael Benatar, Jeremy M. Shefner, Jon Baker, Jonathan Licht, Kathy Mitchell, Christina Fournier, Mark Bromberg, Mazen M. Dimachkie, Steven Nash, James A. Russell, Paul Wicks, Meraida Polak, Melanie Leitner, Lorne Zinman, Steve Kolb, Noah Lechtzin, Sith Sathornsumetee, Lyle Ostrow, Todd Levine, Jonathan Goldstein, Khema Sharma, Carmel Armon, Laurie Gutmann, and Steve Perrin

Subjects
0301 basic medicine, Compassionate Use Trials, Pathology, medicine.medical_specialty, Drug Evaluation, Preclinical, Pilot Projects, Drug Costs, 03 medical and health sciences, Mice, Mice, Neurologic Mutants, 0302 clinical medicine, Double-Blind Method, Medicine, Animals, Humans, Nerve Growth Factors, Amyotrophic lateral sclerosis, Randomized Controlled Trials as Topic, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Peptide Fragments, Rats, Disease Models, Animal, 030104 developmental biology, Treatment Outcome, Neurology, Neurology (clinical), business, Oligopeptides, 030217 neurology & neurosurgery
Published
2016

9. ALSUntangled No. 16: Cannabis

Author

Daniel M. Pastula, Jim Wymer, Michael H. Rivner, Mazen M. Dimachkie, James A. Russell, Steve Kolb, Gary L. Pattee, Muddasir Quereshi, Kathy Mitchell, Noah Lechtzin, Pamela Kittrell, Leo McClusky, Larry Phillips, Melanie Leitner, Hubert Kwieciński, Nicholas Marigakis, Dan Moore, Robert Bowser, Janice Robertson, Yunxia Wang, Carlayne E. Jackson, Todd Levine, James Heywood, Steven Nash, Steven Novella, Carmel Armon, Tahseen Mozaffar, Eric J. Sorenson, Catherine Lomen-Hoerth, Tulio E. Bertorini, Orla Hardiman, Daniel MacGowan, Kate Dalton, Jeremy M. Shefner, Vivian E. Drory, Robert G. Miller, Terry Heiman-Patterson, Dallas Forshew, Megan Grosso, Jonathan Goldstein, John Ravits, Sith Sathornsumetee, George Sachs, Paul Wicks, Jonathan D. Glass, David Saperstein, James Caress, Josep Gamez, Jeffrey D. Rothstein, Hiroshi Mitsumoto, Erik P. Pioro, Jeff Dietz, Michael J. Strong, Lewis P. Rowland, Alexander Sherman, Michael Benatar, Jonathan Licht, Meraida Polak, Michael D. Weiss, Jon Baker, Lisa Kinsley, Katherine Tindall, Stacy A. Rudnicki, Kevin Boylan, Ashok Verma, Robin Conwit, Peter M Andersen, Christen Shoesmith, John T. Kissel, Khema Sharma, Nazem Atassi, Bjorn Oskarsson, Rup Tandan, Richard Bedlack, Ginna Gonzalez, and Bonnie Gerecke

Subjects
medicine.medical_specialty, biology, Cannabinoids, business.industry, Amyotrophic Lateral Sclerosis, Marijuana Smoking, General Medicine, biology.organism_classification, medicine.disease, Neurology, Humans, Immunologic Factors, Medicine, Neurology (clinical), Cannabis, Amyotrophic lateral sclerosis, business, Psychiatry
Published
2012
Full Text
View/download PDF

11. Post-lumbar puncture headache is reduced with use of atraumatic needles in ALS

Author

Nazem Atassi, James D. Berry, Christina Fournier, Shafeeq Ladha, Colin Quinn, David Lacomis, Merit Cudkowicz, Kevin Boylan, Erik A Macklin, and Robert Bowser

Subjects
Male, Post-dural-puncture headache, business.industry, Extramural, Incidence (epidemiology), Amyotrophic Lateral Sclerosis, Retrospective cohort study, Middle Aged, medicine.disease, Neurology, Multicenter study, Needles, Anesthesia, Cutting needle, Humans, Medicine, Female, Neurology (clinical), Post-Dural Puncture Headache, medicine.symptom, Amyotrophic lateral sclerosis, business, Post-Lumbar Puncture Headache, Aged, Retrospective Studies
Abstract

Dear SirPost-LP headache (PLPH) occurs in 10−30% of cases (1−4). Multiple studies have demonstrated reduced incidence of PLPH with atraumatic needles compared to a traditional cutting needle (2−4)....

Published
2013
Full Text
View/download PDF

12. ALSUntangled 15: Coconut Oil

Author

Meraida Polak, Daniel M. Pastula, Michael H. Rivner, James Heywood, James A. Russell, Todd Levine, Orla Hardiman, Steve Kolb, Kevin Boylan, Michael Benatar, Larry Phillips, Michael J. Strong, Steven Novella, Muddasir Quereshi, Vivian E. Drory, Jonathan Goldstein, Ginna Gonzalez, Jonathan Licht, Noah Lechtzin, Kathy Mitchell, Jim Wymer, Melanie Leitner, Pamela Kittrell, Peter M Andersen, Robert G. Miller, George Sachs, Terry Heiman-Patterson, Dallas Forshew, Lisa Kinsley, Paul Wicks, Robert Bowser, Nazem Atassi, Megan Grosso, Tahseen Mozaffar, Lewis P. Rowland, Michael D. Weiss, Hubert Kwieciński, Dan Moore, Alexander Sherman, Janice Robertson, Catherine Lomen-Hoerth, Jon Baker, Eric J. Sorenson, Daniel MacGowan, Kate Dalton, Bonnie Gerecke, Rup Tandan, Gary L. Pattee, James Caress, Katherine Tindall, Leo McClusky, Stacy A. Rudnicki, Carmel Armon, Khema Sharma, Christen Shoesmith, John T. Kissel, Hiroshi Mitsumoto, Ashok Verma, Nicholas Marigakis, Yunxia Wang, Robin Conwit, Carlayne E. Jackson, Jeremy M. Shefner, Bjorn Oskarsson, Richard Bedlack, Mazen M. Dimachkie, Erik P. Pioro, Jeff Dietz, Steven Nash, Jeffrey D. Rothstein, Josep Gamez, John Ravits, Tulio E. Bertorini, Sith Sathornsumetee, Jonathan D. Glass, and David Saperstein

Subjects
food.ingredient, business.industry, Amyotrophic Lateral Sclerosis, Coconut oil, General Medicine, medicine.disease, food, Neurology, Coconut Oil, medicine, Animals, Humans, Plant Oils, Neurology (clinical), Food science, Amyotrophic lateral sclerosis, business
Published
2012
Full Text
View/download PDF

13. ALSUntangled No. 26: lunasin

Author

Jim Wymer, Christina Fournier, Robert Bowser, Lyle Ostrow, Paul E. Barkhaus, Ginna Gonzalez, Hubert Kwieciński, Dan Moore, Muddasir Quereshi, Catherine Lomen-Hoerth, Daniel MacGowan, Pamela Kittrell, Josep Gamez, Eric J. Sorenson, Kate Dalton, Todd Levine, Eric Valor, Ashok Verma, Tulio E. Bertorini, Mark B. Bromberg, Merit Cudkowicz, Noah Lechtzin, Michael J. Strong, Efrat Carmi, Mazen M. Dimachkie, Rup Tandan, Bjorn Oskarsson, Mieko Ogino, Tahseen Mozaffar, James A. Russell, George Sachs, Jonathan Goldstein, Hiroshi Mitsumoto, Steven Novella, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, James Heywood, Richard Bedlack, James Caress, Sith Sathornsumetee, Steve Kolb, Kevin Boylan, Nazem Atassi, Yunxia Wang, Carlayne E. Jackson, Paul Wicks, Gary L. Pattee, Meraida Polak, Chafic Karam, Gleb Levitsky, Lorne Zinman, Craig Oster, Carmel Armon, Edor Kabashi, Robin Conwit, John Ravits, Laurie Gutmann, Janice Robertson, Erik P. Pioro, Brett M. Morrison, Orla Hardiman, Leo McClusky, Vivian E. Drory, Jeff Dietz, Colin Quinn, Jonathan D. Glass, Jeremy M. Shefner, Robert G. Miller, David Saperstein, Michael D. Weiss, Jeffrey V. Rosenfeld, Megan Grosso, Jon Baker, Gregory T. Carter, Kathy Mitchell, Melanie Leitner, Michael Benatar, Bonnie Gerecke, Lisa Kinsley, Khema Sharma, Steven Nash, Christen Shoesmith, John T. Kissel, Jeffrey D. Rothstein, Peter M Andersen, Nicholas J. Maragakis, Katherine Tindall, Stacy A. Rudnicki, Daniel M. Pastula, Michael H. Rivner, Larry Phillips, Lewis P. Rowland, and Alexander Sherman

Subjects
Adult, Male, Pathology, medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, Anti-Inflammatory Agents, Middle Aged, medicine.disease, Neurology, medicine, Soybean Proteins, Humans, Female, Neurology (clinical), Amyotrophic lateral sclerosis, business, Aged, Phytotherapy, Plant Proteins
Published
2014

14. O1‐05‐06: Characterization of frontotemporal dementia +/‐ amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Author

Neill R. Graff-Radford, Rosa Rademakers, Bradley F. Boeve, Dennis W. Dickson, Matt Baker, Keith A. Josephs, Otto Pedraza, David S. Knopman, Mariely DeJesus-Hernandez, Kevin Boylan, and Ronald C. Petersen

Subjects
Pathology, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, C9orf72, medicine, Neurology (clinical), Geriatrics and Gerontology, Amyotrophic lateral sclerosis, business, Trinucleotide repeat expansion, Frontotemporal dementia
Published
2012
Full Text
View/download PDF

15. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

Author

Neil Graff-Radford, Z. K. Wszolek, Rosa Rademakers, Pamela Desaro, Amelia Johnston, Owen A. Ross, Nilufer Ertekin-Taner, Kevin Boylan, and Mariely DeJesus-Hernandez

Subjects
dbSNP, Valosin-containing protein, SOD1, Molecular Sequence Data, Cell Cycle Proteins, Biology, medicine.disease_cause, TARDBP, Exon, Fatal Outcome, Valosin Containing Protein, medicine, Humans, Amino Acid Sequence, Amyotrophic lateral sclerosis, Isoleucine, Genotyping, Clinical/Scientific Notes, Aged, Genetics, Adenosine Triphosphatases, Mutation, Amyotrophic Lateral Sclerosis, Valine, medicine.disease, Black or African American, biology.protein, Female, Neurology (clinical), Human medicine
Abstract

The valosin containing protein (VCP) is a member of the AAA-ATPase family, a group of enzymatic molecular chaperones that have been associated with a range of cellular processes including ubiquitin-proteasome mediated degradation, membrane fusion, apoptosis, cell-cycle control, and autophagy.1 Mutations in VCP were first identified to cause familial inclusion body myopathy with early-onset Paget disease and frontotemporal dementia2 (IBMPFD) and more recently were found to be implicated in familial amyotrophic lateral sclerosis (ALS).3 It was suggested that VCP mutations may account for 1%–2% of familial ALS cases.3 Whether VCP mutations also contribute to sporadic ALS (SALS), however, has not yet been studied. Here, we report the identification of a novel p.Ile151Val mutation in VCP in a patient of African American descent with SALS. ### Case report. In the course of screening patients with ALS ascertained by the ALS Center at Mayo Clinic Florida (MCF) for mutations in the known ALS genes ( SOD1 , TARDBP , FUS , OPTN , and VCP ), we identified an African American patient with the c.451A>G mutation in exon 5 of VCP predicted to result in the p.Ile151Val substitution. Mutations were excluded in all other exons and genes analyzed in this patient. The VCP p.Ile151Val mutation was not previously reported in dbSNP or the 1000 Genomes databases and genotyping using a custom-designed ABI Taqman assay excluded this mutation from 407 healthy African American controls obtained from MCF (n = 317) and the Coriell Institute for Medical Research (n …

Published
2011

16. P1‐185: Wild‐type human TDP‐43 induces mitochondrial abnormalities and axonal degeneration in transgenic mice

Author

Yong Jie Zhang, Wen-Lang Lin, Leonard Petrucelli, Richard Crook, Kevin Boylan, Xin Yu, Rosa Rademakers, Tania F. Gendron, Ya Fei Xu, Joshua Knight, Monica Castanedes Casey, Hong Sheng, Jada Lewis, Dennis W. Dickson, Simon D'Alton, Eileen McGowan, Jimei Tong, and Mike Hutton

Subjects
Genetically modified mouse, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Mitochondrial abnormalities, Health Policy, Wild type, Neurology (clinical), Geriatrics and Gerontology, Biology, Axonal degeneration, Cell biology
Published
2010
Full Text
View/download PDF

17. Subcutaneous IGF-1 is not beneficial in 2-year ALS trial

Author

Daniel Newman, Ericka Simpson, L. J. Sams, Erik P. Pioro, Carlos A. Luciano, Wendy King, S. H. Subramony, Jonathan D. Glass, Stephen N. Scelsa, Stanley H. Appel, Carmel Armon, Jonathan L. Katz, William S. David, Kevin Boylan, Eva L. Feldman, Jay Mandrekar, Eric J. Sorenson, A. J. Windbank, Laurie Gutmann, Peter Bosch, Paul E. Barkhaus, Robert M. Pascuzzi, Charles A. Thornton, Ezgi Tiryaki, William R. Bamlet, Steven Nash, and Leo McCluskey

Subjects
Male, medicine.medical_specialty, Time Factors, Injections, Subcutaneous, Kaplan-Meier Estimate, Tracheostomy, Double-Blind Method, Internal medicine, Thromboembolism, Parenchyma, medicine, Humans, In patient, Treatment Failure, Amyotrophic lateral sclerosis, Insulin-Like Growth Factor I, Receptor, Injections subcutaneous, Hand Strength, business.industry, Amyotrophic Lateral Sclerosis, Articles, Middle Aged, medicine.disease, Surgery, Bioavailability, Deglutition, medicine.anatomical_structure, Endocrinology, Ventricle, Research Design, Female, Neurology (clinical), Animal studies, business, Central Nervous System Agents
Abstract

We congratulate Sorenson et al.1 for their well-executed IGF-1 trial in patients with amyotrophic lateral sclerosis (ALS). While the title appropriately reflects the subcutaneous mode of IGF-1 delivery, the article fails to distinguish this critical limitation. What is the bioavailability in CSF and brain parenchyma in humans treated twice daily with 0.05 mg/kg IGF-1? Animal studies indicate that subcutaneous delivery of ∼0.8 mg/kg IGF-1 results in a maximal CSF concentration of 3 ng/mL IGF-1 at 2 hours postinjection.2 This equates to 0.4 nM IGF-1 in CSF at peak. The Sorenson et al. trial dose was 16-fold lower, suggesting that the maximal CSF concentration in patients would be 0.025 nM. The Kd of the IGF-1 receptor is 0.15 nM.3 Therefore, at 0.025 nM, only 14% of high-affinity and less than 1% of low-affinity receptors will be occupied. Likewise, the concentration of IGF-1 in CSF overestimates the bioavailable concentration within the brain parenchyma. IGF-1 injected into the lateral ventricle of rats exhibits a half-life of only 12 minutes in the CSF and penetrates …

Published
2008

18. A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS

Author

Paul H. Gordon, Ying-Kuen Cheung, Bruce Levin, Howard Andrews, Carolyn Doorish, Robert B. Macarthur, Jacqueline Montes, Kate Bednarz, Julaine Florence, Julie Rowin, Kevin Boylan, Tahseen Mozaffar, Rup Tandan, Hiroshi Mitsumoto, Elizabeth A. Kelvin, John Chapin, Richard Bedlack, Michael Rivner, Leo F. Mccluskey, Alan Pestronk, Michael Graves, Eric J. Sorenson, Richard J. Barohn, Jerry M. Belsh, Jau-Shin Lou, Todd Levine, David Saperstein, Robert G. Miller, Stephen N. Scelsa, and null The Combination Drug Selection Tria

Subjects
medicine.medical_specialty, Combination therapy, business.industry, General Medicine, Minocycline, Article, Clinical trial, Pharmacotherapy, Neurology, Murine model, Internal medicine, Celecoxib, medicine, Physical therapy, Neurology (clinical), Historical control, business, Selection (genetic algorithm), medicine.drug
Abstract

Combining agents with different mechanisms of action may be necessary for meaningful results in treating ALS. The combinations of minocycline-creatine and celecoxib-creatine have additive effects in the murine model. New trial designs are needed to efficiently screen the growing number of potential neuroprotective agents. Our objective was to assess two drug combinations in ALS using a novel phase II trial design. We conducted a randomized, double-blind selection trial in sequential pools of 60 patients. Participants received minocycline (100 mg)-creatine (10 g) twice daily or celecoxib (400 mg)-creatine (10 g) twice daily for six months. The primary objective was treatment selection based on which combination best slowed deterioration in the ALS Functional Rating Scale-Revised (ALSFRS-R); the trial could be stopped after one pool if the difference between the two arms was adequately large. At trial conclusion, each arm was compared to a historical control group in a futility analysis. Safety measures were also examined. After the first patient pool, the mean six-month decline in ALSFRS-R was 5.27 (SD=5.54) in the celecoxib-creatine group and 6.47 (SD=9.14) in the minocycline-creatine group. The corresponding decline was 5.82 (SD=6.77) in the historical controls. The difference between the two sample means exceeded the stopping criterion. The null hypothesis of superiority was not rejected in the futility analysis. Skin rash occurred more frequently in the celecoxib-creatine group. In conclusion, the celecoxib-creatine combination was selected as preferable to the minocycline-creatine combination for further evaluation. This phase II design was efficient, leading to treatment selection after just 60 patients, and can be used in other phase II trials to assess different agents.

Published
2008

19. Characterization of Frontotemporal Dementia +/- Amyotrophic Lateral Sclerosis Associated with the GGGGCC Repeat Expansion in C9ORF72 (S54.005)

Author

John A. Lucas, Jennifer L. Whitwell, D. S. Knopman, Karen M. Kuntz, Val J. Lowe, Rosa Rademakers, Z. K. Wszolek, Neil Graff-Radford, C. R. Jack, K. A. Josephs, Nicola J. Rutherford, Julie A. Fields, R. C. Petersen, Joseph E. Parisi, David R. Jones, P. Vemuri, Kejal Kantarci, B. F. Boeve, Brendon P. Boot, Matthew L. Baker, Kevin Boylan, Tanis J. Ferman, Mariely DeJesus-Hernandez, D. Dickson, Rodolfo Savica, Ralitza H. Gavrilova, Otto Pedraza, Beth K. Rush, and Anahita Adeli

Subjects
Pathology, medicine.medical_specialty, business.industry, C9orf72, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, medicine.disease, Trinucleotide repeat expansion, Frontotemporal dementia
Published
2012
Full Text
View/download PDF

20. Phenotype of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia with ALS (FTD/ALS) Associated with the GGGGCC Repeat Expansion in C9ORF72 (c9FTD/ALS) (IN9-1.004)

Author

Thomas B. Kryston, Kevin Boylan, Pamela Desaro, Amelia Johnston, Beth K. Rush, Matt Baker, Dennis W. Dickson, Zbigniew K. Wszolek, Nicola J. Rutherford, Mariely DeJesus-Hernandez, and Rosa Rademakers

Subjects
Proband, Pediatrics, medicine.medical_specialty, business.industry, Parkinsonism, medicine.disease, Penetrance, nervous system diseases, C9orf72, mental disorders, medicine, Dementia, Neurology (clinical), Family history, Amyotrophic lateral sclerosis, business, Frontotemporal dementia
Abstract

Objective: To review the phenotype of patients with ALS and FTD/ALS in c9FTD/ALS. Background A hexanucleotide repeat expansion in C9ORF72 recently reported as a major cause of familial ALS, FTD/ALS and FTD, designated c9FTD/ALS, also was found in sporadic ALS and FTD patients (doi:10.1016/j.neuron.2011.09.010; doi:10.1016/j.neuron.2011.09.011). Few data regarding the c9FTD/ALS phenotype in ALS and FTD/ALS are available. Design/Methods: 231 patients with ALS or FTD/ALS identified at the Mayo Clinic Florida ALS Center were screened for the c9FTD/ALS mutation. Patients completed a standard ALS diagnostic evaluation including EMG, and neuropsychological testing where indicated. Autopsy was performed in 5 mutation carriers. Results: Eighteen patients (15 ALS (9 male); 3 FTD/ALS (1 male; cognitive dysfunction preceded ALS in 2) representing 17 independent pedigrees had a c9FTD/ALS mutation. FTD suspected in 2/15 ALS patients was not confirmed owing to motor impairment. Nine probands reported first/second degree relatives with ALS or FTD/ALS; 5 probands reported relatives with FTD/dementia only and 2 probands reported no family history of ALS or FTD/dementia. One proband was adopted. All patients had El Escorial possible/probable/definite ALS except for a male with suspected ALS. Onset was bulbar in 2 patients (1 ALS; 1 FTD/ALS) and spinal in 16. Median onset age was 56 years (41-72yr). Median survival was 2.3 years (1-6.3yr) in 11 deceased; brain/spinal cord in 5 demonstrated TDP-43 pathology typical of ALS, with extramotor brain pathology in 2 FTD/ALS. Conclusions: The c9FTD/ALS phenotype of our patients was predominantly classical ALS with spinal onset. Frontotemporal cognitive impairment antedated motor signs in 2/3 FTD/ALS. Survival ranged from 1 to >6 years. c9FTD/ALS in 2 sporadic ALS patients may represent incomplete penetrance, incomplete ascertainment or new mutations and requires further study. Occurrence of FTD alone in family members supports consideration of FTD in first or second degree relatives of ALS patients as a potential marker of c9FTD/ALS. Supported by: ALS Association, Mayo Foundation and MCF ALS Center donor funds, NIH R01 NS065782 and R01 AG026251, NIH/NINDS 1RC2NS070276, NS057567, P50NS072187-01S2, Dystonia Medical Research Foundation, and a gift from Carl Edward Bolch, Jr., and Susan Bass Bolch. Disclosure: Dr. Boylan has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Rush has nothing to disclose. Dr. Desaro has nothing to disclose. Dr. Johnston has nothing to disclose. Dr. Kryston has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism and Realted Disorders and European Journal of Neurology. Dr. Dickson has nothing to disclose. Dr. Rademakers has nothing to disclose.

Published
2012
Full Text
View/download PDF

21. A Study To Evaluate Safety, and Tolerability of Repeated Doses of CK-2017357 (CK-357) in Patients with Amyotrophic Lateral Sclerosis (S25.005)

Author

D. Bradshaw, Benjamin Rix Brooks, Andrew A. Wolff, Lisa Meng, Jacqueline H. Lee, Jesse M. Cedarbaum, Terry Heiman-Patterson, Drew Jones, Jonathan L. Katz, J. M. Shefner, J. Masonek, Zachary Simmons, Nicholas J. Maragakis, Kevin Boylan, Alan Pestronk, Hiroshi Mitsumoto, and Richard J. Barohn

Subjects
medicine.medical_specialty, Tolerability, Repeated doses, business.industry, Internal medicine, medicine, In patient, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.disease, business, Gastroenterology
Published
2012
Full Text
View/download PDF

22. Cognitive Endophenotype Associated with the C9ORF72 GGGGCC Expansion in FTD/ALS (P05.063)

Author

John A. Lucas, Zbigniew K. Wszolek, Keith A. Josephs, Beth K. Rush, Nicola J. Rutherford, Mary M. Machulda, Ronald C. Petersen, Mariely DeJesus-Hernandez, Neill R. Graff-Radford, Tanis J. Ferman, Otto Pedraza, David S. Knopman, Julie A. Fields, Rosa Rademakers, Bradley F. Boeve, Robert J. Ivnik, Matt Baker, Kevin Boylan, and Glenn E. Smith

Subjects
medicine.medical_specialty, Neuropsychology, Cognition, Audiology, medicine.disease, Verbal learning, Executive functions, Memory span, medicine, Neurology (clinical), Psychology, Frontotemporal dementia, Stroop effect, Executive dysfunction
Abstract

Objective: To investigate the cognitive endophenotype associated with the GGGGCC repeat in C9ORF72 in subjects with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) compared to FTD subjects with no known mutations in C9ORF72, MAPT, or PGRN . Background We have previously shown that the cognitive profile in subjects with the GGGGCC expansion in C9ORF72 is characterized by slowed processing speed, executive dysfunction, and impairment in phonemic word fluency. However, this phenotype is not unique to C9ORF72 and resembles the well-known phenotypic characteristics of FTD. Thus, it remains unclear how the cognitive deficits associated with C9ORF72 may differ from the FTD phenotype in subjects without any known mutation. Design/Methods: Subjects were enrolled in Mayo Clinic Alzheimer9s Disease Research Center (ADRC) or Alzheimer9s Disease Patient Registry (ADPR). FTD/ALS subjects with the C9ORF72 mutation (“ C9ORF72 subjects,” n=25) and FTD subjects without any known mutations in C9ORF72, MAPT , and PGRN (n=65) who had neuropsychological data were identified. The neuropsychological battery included tests of attention/executive functions (Digit Span, Trailmaking-B, Stroop), processing speed (Trailmaking-A), language (phonemic and semantic word fluency, Boston Naming), and memory (Logical Memory and Auditory Verbal Learning Test, AVLT). All test scores were converted into age-corrected z-scores. Results: C9ORF72 subjects were younger (57.2 ± 9.1) than FTD subjects without any mutation (66.9 ± 9.8) (p C9ORF72 subjects showed marked deficits in executive functions, speed, and phonemic fluency, but not delayed recall. Compared to those without any known mutations, C9ORF72 subjects performed worse on Trailmaking-B (p = .002), Stroop (p = .04), and phonemic fluency (p = .05), yet significantly better on Logical Memory (p Conclusions: Although a common phenotype exists characterized by impairment in speed, executive functions, and phonemic fluency, subjects with the C9ORF72 mutation demonstrate significantly worse cognitive impairment compared to FTD subjects without any known mutations. Disclosure: Dr. Pedraza has nothing to disclose. Dr. Boeve has nothing to disclose. Dr. DeJesus-Hernandez has nothing to disclose. Dr. Rush has nothing to disclose. Dr. Lucas has nothing to disclose. Dr. Fields has received personal compensation for activities with Medtronic, Inc., as a consultant. Dr. Machulda has nothing to disclose. Dr. Graff-Radford has received personal compensation for activities with Codman as a participant on a scientific advisory board. Dr. Graff-Radford has received personal compensation in an editorial capacity for the Neurologist. Dr. Graff-Radford has received research support from Janssen Pharmaceuticals, Inc., Pfizer Inc, Medivation, Inc., Forrest Laboratories and Allon Therapeutics Inc. Dr. Knopman has received personal compensation for activities with Lilly Pharmaceuticals as a data safety monitoring board member. Dr. Knopman has received personal compensation in an editorial capacity for Neurology. Dr. Knopman has received research support from Elan, Forest, and Baxter. Dr. Josephs has nothing to disclose. Dr. Rutherford has nothing to disclose. Dr. Baker has nothing to disclose. Dr. Ferman has nothing to disclose. Dr. Smith has nothing to disclose. Dr. Ivnik has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism and Realted Disorders and European Journal of Neurology. Dr. Boylan has nothing to disclose. Dr. Petersen has received personal compensation for activities with Pfizer, Inc., Janssen Alzheimer9s Immunotherapy, Elan Pharmaceuticals, and GE Healthcare. Dr. Rademakers has nothing to disclose.

Published
2012
Full Text
View/download PDF

23. Headache rate and cost of care following lumbar puncture at a single tertiary care hospital

Author

R.J. Albadareen, Y. Dakka, Kevin Boylan, M. Jankowski, Leighanne R. McGill, Brian Silver, and N. Warra

Subjects
Episodic ataxia, medicine.diagnostic_test, Lumbar puncture, business.industry, Anesthesia, Incidence (epidemiology), medicine, Neurology (clinical), medicine.disease, business, Cost of care, Tertiary care, Post-Lumbar Puncture Headache
Abstract

Readers' correspondence this week brings out new points in 2 recently published articles. L.R. McGill and Dr. Boylan offer evidence from their own data to support the findings of Dr. Dakka et al. that noncutting needles reduce incidence and duration of post lumbar puncture headache (PLPH) compared to cutting needles. Dr. Hess wanted to know if 4-aminopyridine (4-AP) changed the duration of episodic ataxia (EA) attacks in addition to reducing their frequency, as the authors showed. Dr. …

Published
2011
Full Text
View/download PDF

24. Buspirone and dystonia

Author

Kevin Boylan

Subjects
Dystonia, medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, Medicine, Neurology (clinical), business, medicine.disease, Buspirone, medicine.drug
Published
1991
Full Text
View/download PDF

25. Duchenne Muscular Dystrophy Manifesting Carriers

Author

Kevin Boylan

Subjects
Genetics, medicine.medical_specialty, Daughter, business.industry, Genetic counseling, media_common.quotation_subject, Duchenne muscular dystrophy, Dystrophy, medicine.disease, Dermatology, Arts and Humanities (miscellaneous), medicine, Neurology (clinical), Family history, Differential diagnosis, Muscular dystrophy, business, X chromosome, media_common
Abstract

To the Editor. —The article by Barkhaus and Gilchrist in the June 1989 issue of theArchives 1 makes the appropriate point that Duchenne dystrophy in manifesting female carriers may be difficult to distinguish clinically from sporadic autosomal recessive limb-girdle muscular dystrophy. Limb-girdle muscular dystrophy is a heterogeneous syndrome, however, and autosomal dominant forms should also be considered in the differential diagnosis of females with this phenotype. 2 If the family history is negative or ambiguous in patients with limb-girdle muscular dystrophy, then autosomal recessive inheritance is most likely, but an autosomal dominant form could not be ruled out by examination findings alone. 2 In addition, autosomal dominant limb-girdle dystrophy transmitted from mother to daughter could clinically resemble the Duchenne carrier state. 3 Distinction of Duchenne dystrophy from autosomal recessive or dominant muscular dystrophy in such patients is important for accurate genetic counseling. Genetic implications of the diagnosis of muscular

Published
1990
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results