Lev G Goldfarb

Lev G Goldfarb

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Lev G Goldfarb

Lev G Goldfarb

Publications by authors named "Lev G Goldfarb"

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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Neuromuscul Disord 2014 Mar 11;24(3):241-4. Epub 2013 Dec 11.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, United Kingdom; Department of Neurology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle NE1 4LP, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988992PMC
March 2014

Myofibrillar myopathies: new developments.

Curr Opin Neurol 2013 Oct;26(5):527-35

Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0b013e328364d6b1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127196PMC
October 2013

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.

Eur Neurol 2012 5;68(5):279-86. Epub 2012 Oct 5.

Department of Neurology, Nottingham University Hospitals, Queens Medical Centre, Nottingham, UK.

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http://dx.doi.org/10.1159/000341617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551980PMC
June 2013

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Autophagy 2013 Mar 13;9(3):422-3. Epub 2012 Dec 13.

Department of Neurology, Neuromuscular Center Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University, Bochum, Germany.

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http://www.tandfonline.com/doi/abs/10.4161/auto.22921
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http://dx.doi.org/10.4161/auto.22921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590265PMC
March 2013

Filamin C-related myopathies: pathology and mechanisms.

Acta Neuropathol 2013 Jan 30;125(1):33-46. Epub 2012 Oct 30.

Institute for Cell Biology, University of Bonn, Ulrich-Haberland-Str. 61a, 53121 Bonn, Germany.

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http://link.springer.com/10.1007/s00401-012-1054-9
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http://dx.doi.org/10.1007/s00401-012-1054-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127197PMC
January 2013

Kuru: genes, cannibals and neuropathology.

J Neuropathol Exp Neurol 2012 Feb;71(2):92-103

Deptartment of Molecular Pathology and Neuropathology, Medical University of Lodz, Poland.

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http://dx.doi.org/10.1097/NEN.0b013e3182444efdDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120877PMC
February 2012

Nemaline myopathy type 6: clinical and myopathological features.

Muscle Nerve 2010 Dec;42(6):901-7

Institute of Neuropathology, Pathology Department, IDIBELL-Hospital de Bellvitge and CIBERNED, Hospitalet de Llobregat, Feixa Llarga s/n, Hospitalet de Llobregat, Barcelona 08907, Spain.

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http://dx.doi.org/10.1002/mus.21788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3057880PMC
December 2010

DNA sequencing errors in molecular diagnostics of filamin myopathy.

Clin Chem Lab Med 2010 Oct 27;48(10):1409-14. Epub 2010 Jun 27.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.

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http://dx.doi.org/10.1515/CCLM.2010.272DOI Listing
October 2010

Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases.

Folia Neuropathol 2009 ;47(2):171-81

National Institutes of Health, Room 4S06, 5625 Fishers Lane, MSC 9404, Bethesda, Maryland 20892-9404, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760956PMC
August 2009

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

J Clin Invest 2009 Jul 1;119(7):1806-13. Epub 2009 Jul 1.

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

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http://dx.doi.org/10.1172/JCI38027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701871PMC
July 2009

Intermediate filament diseases: desminopathy.

Adv Exp Med Biol 2008 ;642:131-64

National Institutes of Health, Bethesda, MD 20892-9404, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776705PMC
http://dx.doi.org/10.1007/978-0-387-84847-1_11DOI Listing
February 2009

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

Neuromuscul Disord 2008 Dec 22;18(12):929-33. Epub 2008 Oct 22.

Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, and Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2008.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592511PMC
December 2008

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Int J Cardiol 2007 Apr 4;117(2):244-53. Epub 2006 Aug 4.

Department of Internal Medicine, Hypertension and Angiology, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ijcard.2006.05.019DOI Listing
April 2007

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Brain 2006 Sep 15;129(Pt 9):2318-31. Epub 2006 May 15.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.

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http://dx.doi.org/10.1093/brain/awl120DOI Listing
September 2006

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Neuromuscul Disord 2006 Aug 27;16(8):498-503. Epub 2006 Jun 27.

Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660600169
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http://dx.doi.org/10.1016/j.nmd.2006.05.011DOI Listing
August 2006

Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.

J Neuropathol Exp Neurol 2006 Jul;65(7):642-51

Department of Neurology, University of Genoa, Genoa, Italy, and Pikeville Neurology Clinic and Diagnostic Center, Pikeville, Kentucky, USA.

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http://dx.doi.org/10.1097/01.jnen.0000228198.81797.4dDOI Listing
July 2006

Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy.

Circulation 2006 Jan;113(4):e53-5

Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.105.502575DOI Listing
January 2006

Myotilinopathy: refining the clinical and myopathological phenotype.

Brain 2005 Oct 9;128(Pt 10):2315-26. Epub 2005 Jun 9.

Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

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https://brain.oxfordjournals.org/content/brain/128/10/2315.f
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awh576DOI Listing
October 2005

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

Acta Neuropathol 2005 Apr 10;109(4):411-7. Epub 2005 Mar 10.

Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany.

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http://dx.doi.org/10.1007/s00401-005-0980-1DOI Listing
April 2005

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

J Neurol 2004 Feb;251(2):143-9

National Institute of Neurological Disorders and Stroke, National Institutes of Health Bldg 10, Room 4B37, 10 Center Dr., MSC 1361, Bethesda, Maryland 20892-1361, USA.

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http://link.springer.com/10.1007/s00415-004-0289-3
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http://dx.doi.org/10.1007/s00415-004-0289-3DOI Listing
February 2004

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Muscle Nerve 2003 Jun;27(6):669-75

Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg. 10, Room 4B37, 10 Central Dr., MSC 1361, Bethesda, Maryland 20892-1361, USA.

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http://dx.doi.org/10.1002/mus.10370DOI Listing
June 2003

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Neuromuscul Disord 2003 Mar;13(3):252-8

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4B37, 10 Central Drive, MSC 1361, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/s0960-8966(02)00271-7DOI Listing
March 2003

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.

Ann Neurol 2002 Sep;52(3):355-9

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

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http://dx.doi.org/10.1002/ana.10267DOI Listing
September 2002

Genetics and infectious disease: convergence at the prion.

Authors:
Lev G Goldfarb

Epidemiology 2002 Jul;13(4):379-81

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg. 10 Rm. 4B37, 10 Center Drive, MSC 3161, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1097/00001648-200207000-00003DOI Listing
July 2002

Kuru: the old epidemic in a new mirror.

Authors:
Lev G Goldfarb

Microbes Infect 2002 Jul;4(8):875-82

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Room 4B37, Bldg 10, 10 Center Drive, Bethesda, MD 20892-1361, USA.

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http://dx.doi.org/10.1016/s1286-4579(02)01608-8DOI Listing
July 2002