Kenneth H Fischbeck

Kenneth H Fischbeck

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Kenneth H Fischbeck

Publications by authors named "Kenneth H Fischbeck"

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Oligonucleotide Treatment for Huntington's Disease.

N Engl J Med 2019 06 6;380(24):2373-2374. Epub 2019 May 6.

From the National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (K.H.F.); and the Departments of Neurology and Psychiatry, College of Physicians and Surgeons, Columbia University and Hereditary Disease Foundation, New York (N.S.W.).

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http://dx.doi.org/10.1056/NEJMe1904861DOI Listing
June 2019

Spinal muscular atrophy.

Handb Clin Neurol 2018 ;148:591-601

Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446407650
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http://dx.doi.org/10.1016/B978-0-444-64076-5.00038-7DOI Listing
August 2018

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents.

J Vis Exp 2018 08 10(138). Epub 2018 Aug 10.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health; Department of Physiology, Anatomy and Genetics, University of Oxford;

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http://dx.doi.org/10.3791/55724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126683PMC
August 2018

Nucleocytoplasmic transport defect in a North American patient with ALS8.

Ann Clin Transl Neurol 2018 03 4;5(3):369-375. Epub 2018 Feb 4.

Neurogenetics Branch National Institute of Neurological Disorders and Stroke NIH 35 Convent Drive Bethesda Maryland 20892.

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http://dx.doi.org/10.1002/acn3.515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846449PMC
March 2018

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Mol Cell 2018 02 27;69(3):426-437.e7. Epub 2018 Jan 27.

Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA; Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2017.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815878PMC
February 2018

Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.

Muscle Nerve 2018 Jan 25;57(1):40-44. Epub 2017 Sep 25.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.25957DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763365PMC
January 2018

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.

Neurology 2017 Dec 15;89(24):2481-2490. Epub 2017 Nov 15.

From the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.

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http://dx.doi.org/10.1212/WNL.0000000000004748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729799PMC
December 2017

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.

Ann Clin Transl Neurol 2017 09 28;4(9):655-662. Epub 2017 Jul 28.

Radiology and Imaging Sciences The National Institutes of Health Clinical Center Bethesda Maryland.

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http://dx.doi.org/10.1002/acn3.440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590523PMC
September 2017

A novel mutation in in a Malian family with spastic paraplegia and sensory loss.

Ann Clin Transl Neurol 2017 04 21;4(4):272-275. Epub 2017 Mar 21.

Service de Neurologie Centre Hospitalier Universitaire du Point "G"Bamako Mali; Neurogenetics Branch NINDS National Institutes of Health Bethesda Maryland.

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http://doi.wiley.com/10.1002/acn3.402
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http://dx.doi.org/10.1002/acn3.402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376762PMC
April 2017

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

Ann Clin Transl Neurol 2016 12 19;3(12):948-955. Epub 2016 Oct 19.

Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland.

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http://dx.doi.org/10.1002/acn3.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224820PMC
December 2016

ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.

JCI Insight 2016 11 17;1(19):e88427. Epub 2016 Nov 17.

Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1172/jci.insight.88427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111506PMC
November 2016

Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.

Neuromuscul Disord 2016 10 28;26(10):650-658. Epub 2016 Jul 28.

Experimental Medicine Imaging, Experimental Medicine Unit, GlaxoSmithKline, Middlesex UB11 1BT, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062949PMC
http://dx.doi.org/10.1016/j.nmd.2016.07.013DOI Listing
October 2016

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.

Mol Ther 2016 05 12;24(5):937-45. Epub 2016 Jan 12.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/mt.2016.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881766PMC
May 2016

CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.

Neurobiol Dis 2016 Apr 11;88:118-24. Epub 2016 Jan 11.

Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Services, United States.

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http://dx.doi.org/10.1016/j.nbd.2016.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767160PMC
April 2016

Spinal and Bulbar Muscular Atrophy Overview.

J Mol Neurosci 2016 Mar 7;58(3):317-20. Epub 2015 Nov 7.

Neurogenetics Branch, National Institute for Neurological Disorders and Stroke, National Institutes of Health, 35-2A1000, 35 Convent Dr., Bethesda, MD, 20892-3705, USA.

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http://dx.doi.org/10.1007/s12031-015-0674-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094812PMC
March 2016

Genetics and genomic medicine in Mali: challenges and future perspectives.

Mol Genet Genomic Med 2016 Mar 17;4(2):126-34. Epub 2016 Mar 17.

Neurogenetics Branch National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health (NIH) Bethesda Maryland.

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http://dx.doi.org/10.1002/mgg3.212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799869PMC
March 2016

Sexual Reassignment Fails to Prevent Kennedy's Disease.

J Neuromuscul Dis 2016 03;3(1):121-125

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/JND-150128DOI Listing
March 2016

Spinal and Bulbar Muscular Atrophy.

Neurol Clin 2015 Nov 8;33(4):847-54. Epub 2015 Sep 8.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ncl.2015.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628725PMC
November 2015

The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity.

Biochem Biophys Rep 2015 Sep 26;3:134-139. Epub 2015 Jul 26.

Department of Cell and Molecular Biology, Karolinska Institutet, SE-17177 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.bbrep.2015.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668691PMC
September 2015

Epilepsy genetics in Africa: challenges and future perspectives.

North Afr Middle East Epilepsy J 2014 Sep-Oct;3(5):5-7

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, (USA).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580280PMC
September 2015

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.

Neurobiol Dis 2014 Oct 9;70:12-20. Epub 2014 Jun 9.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, 2A-1000 Building 35, 35 Convent Drive, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.05.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172362PMC
October 2014

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Hum Mol Genet 2014 Sep 23;23(18):4745-57. Epub 2014 Apr 23.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke and Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, MD, USA

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http://hmg.oxfordjournals.org/content/early/2014/04/23/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu189
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http://dx.doi.org/10.1093/hmg/ddu189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140458PMC
September 2014

Nicotinamide in Friedreich's ataxia: useful or not?

Lancet 2014 Aug 30;384(9942):474-5. Epub 2014 Apr 30.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/S0140-6736(14)60573-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285390PMC
August 2014

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Neurobiol Dis 2014 Aug 5;68:180-9. Epub 2014 May 5.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086162PMC
August 2014

Research capacity. Enabling the genomic revolution in Africa.

Authors:
Charles Rotimi Akin Abayomi Alash'le Abimiku Victoria May Adabayeri Clement Adebamowo Ezekiel Adebiyi Adebowale D Ademola Adebowale Adeyemo Dwomoa Adu Dissou Affolabi Godfred Agongo Samuel Ajayi Sally Akarolo-Anthony Rufus Akinyemi Albert Akpalu Marianne Alberts Orlando Alonso Betancourt Ahmed Mansour Alzohairy Gobena Ameni Olukemi Amodu Gabriel Anabwani Kristian Andersen Fatiu Arogundade Oyedunni Arulogun Danny Asogun Rasheed Bakare Naby Balde Mary Lynn Baniecki Christine Beiswanger Alia Benkahla Lara Bethke Micheal Boehnke Vincent Boima James Brandful Andrew I Brooks Frank C Brosius Chester Brown Bruno Bucheton David T Burke Barrington G Burnett Stacy Carrington-Lawrence Nadia Carstens John Chisi Alan Christoffels Richard Cooper Heather Cordell Nigel Crowther Talishiea Croxton Jantina de Vries Leslie Derr Peter Donkor Seydou Doumbia Audrey Duncanson Ivy Ekem Ahmed El Sayed Mark E Engel John C K Enyaru Dean Everett Faisal M Fadlelmola Eyitayo Fakunle Kenneth H Fischbeck Anne Fischer Onikepe Folarin Junaid Gamieldien Robert F Garry Simani Gaseitsiwe Rasheed Gbadegesin Anita Ghansah Maria Giovanni Parham Goesbeck F Xavier Gomez-Olive Donald S Grant Ravnit Grewal Mark Guyer Neil A Hanchard Christian T Happi Scott Hazelhurst Branwen J Hennig Christiane Hertz- Fowler Winston Hide Friedhelm Hilderbrandt Christopher Hugo-Hamman Muntaser E Ibrahim Regina James Yasmina Jaufeerally-Fakim Carolyn Jenkins Ute Jentsch Pan-Pan Jiang Moses Joloba Victor Jongeneel Fourie Joubert Mukthar Kader Kathleen Kahn Pontiano Kaleebu Saidi H Kapiga Samar Kamal Kassim Ishmael Kasvosve Jonathan Kayondo Bernard Keavney Adeodata Kekitiinwa Sheik Humarr Khan Paul Kimmel Mary-Claire King Robert Kleta Mathurin Koffi Jeffrey Kopp Matthias Kretzler Judit Kumuthini Samuel Kyobe Catherine Kyobutungi Daniel T Lackland Karen A Lacourciere Guida Landouré Rita Lawlor Thomas Lehner Maia Lesosky Naomi Levitt Katherine Littler Zane Lombard Jeanne F Loring Sylvester Lyantagaye Annette Macleod Ebony B Madden Chengetai R Mahomva Julie Makani Manmak Mamven Marape Marape Graeme Mardon Patricia Marshall Darren P Martin Daniel Masiga Robin Mason Michael Mate-Kole Enock Matovu Mary Mayige Bongani M Mayosi Jean Claude Mbanya Sheryl A McCurdy Mark I McCarthy Helen McIlleron S O Mc'Ligeyo Corrine Merle Ana Olga Mocumbi Charles Mondo John V Moran Ayesha Motala Marva Moxey-Mims Wata Sununguko Mpoloka Chisomo L Msefula Thuli Mthiyane Nicola Mulder Gebregziab her Mulugeta Dieuodonne Mumba John Musuku Mo Nagdee Oyekanmi Nash Daouda Ndiaye Anh Quynh Nguyen Mark Nicol Oathokwa Nkomazana Shane Norris Betty Nsangi Alexander Nyarko Moffat Nyirenda Eileen Obe Reginald Obiakor Abraham Oduro Solomon F Ofori-Acquah Okechukwu Ogah Stephen Ogendo Kwaku Ohene-Frempong Akinlolu Ojo Timothy Olanrewaju John Oli Charlotte Osafo Odile Ouwe Missi Oukem-Boyer Bruce Ovbiagele Andrew Owen Mayowa Ojo Owolabi Lukman Owolabi Ellis Owusu-Dabo Guillaume Pare Rulan Parekh Hugh G Patterton Margaret B Penno Jane Peterson Rembert Pieper Jacob Plange-Rhule Martin Pollak Julia Puzak Rajkumar S Ramesar Michele Ramsay Rebekah Rasooly Shiksha Reddy Pardis C Sabeti Kwamena Sagoe Tunde Salako Oumar Samassékou Manjinder S Sandhu Osman Sankoh Fred Stephen Sarfo Marie Sarr Gasnat Shaboodien Issa Sidibe Gustave Simo Martin Simuunza Liam Smeeth Eugene Sobngwi Himla Soodyall Hermann Sorgho Oumou Sow Bah Sudha Srinivasan Dan J Stein Ezra S Susser Carmen Swanepoel Godfred Tangwa Andrew Tareila Ozlem Tastan Bishop Bamidele Tayo Nicki Tiffin Halidou Tinto Ekaete Tobin Stephen Meir Tollman Mahamadou Traoré Marsha J Treadwell Jennifer Troyer Masego Tsimako-Johnstone Vincent Tukei Ifeoma Ulasi Nzovu Ulenga Beverley van Rooyen Ablo Prudence Wachinou Salina P Waddy Alisha Wade Misaki Wayengera James Whitworth Louise Wideroff Cheryl A Winkler Sarah Winnicki Ambroise Wonkam Mengistu Yewondwos Tadase sen Nathan Yozwiak Heather Zar

Science 2014 Jun;344(6190):1346-8

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http://dx.doi.org/10.1126/science.1251546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138491PMC
June 2014

Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.

Rehabil Res Pract 2014 5;2014:873872. Epub 2014 May 5.

National Institute of Neurological Disorders and Stroke (NINDS), Neurogenetics Branch, Department of Health and Human Services (DHHS), National Institutes of Health (NIH), Building 35, Room 2A-1000, 35 Convent Drive, MSC 3705, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1155/2014/873872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026974PMC
May 2014

Muscle matters in Kennedy's disease.

Neuron 2014 Apr;82(2):251-3

Neurogenetics Branch, National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086161PMC
April 2014

A role for androgen reduction treatment in Kennedy disease?

Muscle Nerve 2013 Jun 21;47(6):789. Epub 2013 Mar 21.

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http://dx.doi.org/10.1002/mus.23814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283484PMC
June 2013

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.

Mol Biol Cell 2013 Jun 24;24(12):1863-71. Epub 2013 Apr 24.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1091/mbc.E13-01-0042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681692PMC
June 2013

Common data elements for clinical research in Friedreich's ataxia.

Mov Disord 2013 Feb 12;28(2):190-5. Epub 2012 Dec 12.

Department of Neurology, University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/mds.25201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581713PMC
February 2013

Developing treatment for spinal and bulbar muscular atrophy.

Prog Neurobiol 2012 Dec 2;99(3):257-61. Epub 2012 Jun 2.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35-2A1000, 35 Convent Dr., Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.pneurobio.2012.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460036PMC
December 2012

Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.

Mol Med 2012 Dec 6;18:1261-8. Epub 2012 Dec 6.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3705, USA.

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http://dx.doi.org/10.2119/molmed.2012.00271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521783PMC
December 2012

Neurogenic and myogenic contributions to hereditary motor neuron disease.

Neurodegener Dis 2012 9;9(4):199-209. Epub 2012 Feb 9.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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https://www.karger.com/Article/FullText/335311
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http://dx.doi.org/10.1159/000335311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3369264PMC
October 2012

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.

Hum Mol Genet 2012 Oct 13;21(20):4448-59. Epub 2012 Jul 13.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/dds286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529584PMC
October 2012

[Past, present, and future of polyglutamine expansion disease].

Rinsho Shinkeigaku 2011 Nov;51(11):825

Neurogenetics Branch, NINDS, NIH, USA.

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November 2011

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.

Hum Mol Genet 2011 Sep 21;20(18):3667-77. Epub 2011 Jun 21.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddr288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159550PMC
September 2011

Amyotrophic lateral sclerosis and spinocerebellar ataxia 2.

Neurology 2011 Jun 11;76(24):2050-1. Epub 2011 May 11.

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http://dx.doi.org/10.1212/WNL.0b013e31821f4498DOI Listing
June 2011

Genetic testing and counseling for hereditary neurological diseases in Mali.

J Community Genet 2011 Mar 22;2(1):33-42. Epub 2011 Feb 22.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA,

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http://dx.doi.org/10.1007/s12687-011-0038-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3186021PMC
March 2011

Therapeutic approaches to spinal and bulbar muscular atrophy.

Trends Pharmacol Sci 2010 Nov 20;31(11):523-7. Epub 2010 Sep 20.

Neuronal Survival Unit, Wallenberg Neuroscience Center, Lund University, BMC A10, 221 84 Lund, Sweden.

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http://dx.doi.org/10.1016/j.tips.2010.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2963653PMC
November 2010

GARS axonopathy: not every neuron's cup of tRNA.

Trends Neurosci 2010 Feb;33(2):59-66

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), 35 Convent Drive, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1016/j.tins.2009.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822721PMC
February 2010

Regulation of SMN protein stability.

Mol Cell Biol 2009 Mar 22;29(5):1107-15. Epub 2008 Dec 22.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://mcb.asm.org/cgi/doi/10.1128/MCB.01262-08
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http://dx.doi.org/10.1128/MCB.01262-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643817PMC
March 2009

Mitochondrial abnormalities in spinal and bulbar muscular atrophy.

Hum Mol Genet 2009 Jan 29;18(1):27-42. Epub 2008 Sep 29.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddn310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644643PMC
January 2009

Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics.

Neurobiol Dis 2008 Jun 6;30(3):365-74. Epub 2008 Mar 6.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.nbd.2008.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442575PMC
June 2008

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.

Lancet Neurol 2007 Oct;6(10):878-86

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1016/S1474-4422(07)70220-XDOI Listing
October 2007

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.

Hum Mol Genet 2007 Jul 30;16(13):1593-603. Epub 2007 Apr 30.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddm109DOI Listing
July 2007

Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.

Arch Neurol 2007 Jun;64(6):803-8

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1001/archneur.64.6.803DOI Listing
June 2007

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.

J Clin Invest 2007 Mar 22;117(3):659-71. Epub 2007 Feb 22.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MA 20892, USA.

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http://dx.doi.org/10.1172/JCI29562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797603PMC
March 2007

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

Mol Cell Neurosci 2006 Jul 21;32(3):283-98. Epub 2006 Jun 21.

Cell and Molecular Biology Graduate Group, The University of Pennsylvania Medical Center, Philadelphia, PA 19104-6077, USA.

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http://dx.doi.org/10.1016/j.mcn.2006.05.001DOI Listing
July 2006

A novel cell immunoassay to measure survival of motor neurons protein in blood cells.

BMC Neurol 2006 Feb 1;6. Epub 2006 Feb 1.

Howard Hughes Medical Institute And Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA.

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http://dx.doi.org/10.1186/1471-2377-6-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413553PMC
February 2006

Therapeutics development for triplet repeat expansion diseases.

Nat Rev Genet 2005 Oct;6(10):756-65

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3705, USA.

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http://dx.doi.org/10.1038/nrg1690DOI Listing
October 2005

The role of histone acetylation in SMN gene expression.

Hum Mol Genet 2005 May 16;14(9):1171-82. Epub 2005 Mar 16.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/14/9/1171.full.pdf
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http://www.hmg.oupjournals.org/cgi/doi/10.1093/hmg/ddi130
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http://dx.doi.org/10.1093/hmg/ddi130DOI Listing
May 2005

Severe neuropathy with leaky connexin32 hemichannels.

Ann Neurol 2005 May;57(5):749-54

Department of Neurology, Parkinson's Disease and Movement Disorders Center, University of Pennsylvania Medical Center, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1002/ana.20459DOI Listing
May 2005

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.

J Neurosci 2005 Feb;25(6):1550-9

Department of Neurology and Cell and Molecular Biology Graduate Group, The University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104-6077, USA.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.3082-04.2
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http://dx.doi.org/10.1523/JNEUROSCI.3082-04.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6725992PMC
February 2005

Spinal muscular atrophy in the neonate.

J Obstet Gynecol Neonatal Nurs 2004 Jan-Feb;33(1):12-20

Clinical Research Training Program, National Institute of Neurological Diseases and Stroke, Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892-2178, USA.

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March 2004

A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.

Hum Mol Genet 2004 Feb 6;13(4):437-46. Epub 2004 Jan 6.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MS 20892-1250, USA.

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http://dx.doi.org/10.1093/hmg/ddh045DOI Listing
February 2004

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

Ann Neurol 2003 Nov;54(5):647-54

Neurogenetics Branch, National Institute of Neurologic Diseases and Stroke/NIH, Building 10, Room 3B-14, MSC 1250, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ana.10743DOI Listing
November 2003

Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.

Genes Dev 2003 Jun;17(12):1463-8

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1250, USA.

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http://dx.doi.org/10.1101/gad.1087503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC196076PMC
June 2003