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Genomes and Genes | L G GoldfarbSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Genetics and infectious disease: convergence at the prionLev G Goldfarb
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg. 10 Rm. 4B37, 10 Center Drive, MSC 3161, Bethesda, MD 20892, USA
Epidemiology 13:379-81. 2002
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseLev G Goldfarb
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
J Clin Invest 119:1806-13. 2009..Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications...- Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsCamilo Toro
Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Neurol 13:29. 2013..We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency of this disease among myopathy patients of various ethnic origins... - Genetic studies in relation to kuru: an overviewL G Goldfarb
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
Curr Mol Med 4:375-84. 2004.... - Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 casesLev G Goldfarb
National Institutes of Health, Room 4S06, 5625 Fishers Lane, MSC 9404, Bethesda, Maryland 20892 9404, USA
Folia Neuropathol 47:171-81. 2009..Although there has been a recent decline in the number of cases, increasing travel may result in further spread of this fatal disease to susceptible individuals in other regions of the world... - Kuru: the old epidemic in a new mirrorLev G Goldfarb
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Room 4B37, Bldg 10, 10 Center Drive, Bethesda, MD 20892 1361, USA
Microbes Infect 4:875-82. 2002..The major goal of this review is to identify and illustrate these points... - Intermediate filament diseases: desminopathyLev G Goldfarb
National Institutes of Health, Bethesda, MD 20892 9404, USA
Adv Exp Med Biol 642:131-64. 2008..AlphaB-crystallin serves as a chaperone for desmin preventing its aggregation under various forms of stress; mutant CRYAB causes cardiac and skeletal myopathies identical to those resulting from DES mutations... - Desmin myopathyL G Goldfarb
National Institutes of Health, Bethesda, MD 20892 1361, USA
Brain 127:723-34. 2004..Better understanding of disease pathogenesis would stimulate research focused on developing specific treatments for these conditions... - Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob diseaseL Cervenakova
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 95:13239-41. 1998..quot; The clinical phenotype of such cases should be similar to that of homozygous cases, but may have less (or at least less readily identified) amyloid plaque formation... - Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European originL G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
Ann Neurol 31:274-81. 1992..Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178Asn is the actual disease mutation... - Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotypeH S Lee
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
J Infect Dis 183:192-196. 2001..These findings are relevant to the current outbreak of variant Creutzfeldt-Jakob disease (vCJD) in the United Kingdom, because all vCJD patients tested thus far have been M/M carriers... - Desmin splice variants causing cardiac and skeletal myopathyK Y Park
Clinical Neurogenetics Unit and Neuromuscular Disorders Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
J Med Genet 37:851-7. 2000..This is the first report on the pathogenic potentials of splice site mutations in the desmin gene... - Infectious amyloid precursor gene sequences in primates used for experimental transmission of human spongiform encephalopathyL Cervenakova
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
Proc Natl Acad Sci U S A 91:12159-62. 1994.... - Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin geneM C Dalakas
Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
N Engl J Med 342:770-80. 2000..Skeletal and cardiac myopathy develops in mice that lack desmin, suggesting that mutations in the desmin gene may be pathogenic... - Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted diseaseP Brown
Laboratory of CNS Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
Ann Neurol 35:513-29. 1994.... - APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathiesJ Chapman
Clinical Neurogenetics Unit, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 4129, USA
Neurology 51:548-53. 1998..Amyloid formation is an important part of the pathogenesis in AD as well as in spongiform encephalopathies; apoE deposition in amyloid plaques has been documented in both conditions... - Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob diseaseH S Lee
Clinical Neurogenetics Unit, National Institute of Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, USA
Am J Hum Genet 64:1063-70. 1999..On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation... - Novel PRNP sequence variant associated with familial encephalopathyL Cervenakova
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland
Am J Med Genet 88:653-6. 1999..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:653-656, 1999. Published 1999 Wiley-Liss, Inc... - Missense mutations in desmin associated with familial cardiac and skeletal myopathyL G Goldfarb
Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892, USA
Nat Genet 19:402-3. 1998..Compound heterozygosity for two other mutations, A360P and N393I, was detected in a second family characterized by childhood-onset aggressive course of cardiac and skeletal myopathy... - Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
Clin Genet 60:46-51. 2001..01) and in patients with mutations leading to a nonconservative amino acid change (p=0.04). Our findings emphasize the wide variety of genetic mechanisms leading to Fabry disease. A significant genotype-phenotype relationship was found... - Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 familiesY X Zhou
Genetics of Development and Disease Branch, Bldg 10/9N104, NIDDK, NIH, 10 Center Dr Bethesda, MD 20892, USA
Arch Neurol 58:789-94. 2001.... - Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob diseaseA Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Rockville Pike, Bethesda, MD 20892 1361, USA
Clin Genet 66:496-501. 2004..Our findings suggest that patients suspected of vCJD should undergo testing for SCA17, Huntington's disease and other neurodegenerative disorders having phenotypic similarities with vCJD... - Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP geneL G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
Proc Natl Acad Sci U S A 88:10926-30. 1991..These observations, together with data on published British patients with 11 and 14 repeats, strongly suggest that the occurrence of 10 or more octapeptide repeats in the encoded amyloid precursor protein predisposes to CJD... - Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor geneP Brown
Laboratory of CNS Studies, NINDS, NIH, Bethesda, MD 20892
Neurology 42:422-7. 1992..Analysis of this and other families with similar inserts suggests that such mutations in the PRNP gene not only predispose to CJD, but also modify its phenotypic expression... - Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndromeL G Goldfarb
Laboratory of CNS Studies, NINDS, NIH, Bethesda, Maryland 20892
Exp Neurol 108:247-50. 1990.... - Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family membersK Sivakumar
Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1361, USA
Ann Neurol 45:680-3. 1999..Cellular pathology studies of SPG2 mutations offer an explanation for the paradoxical finding that mutations associated with the mildest phenotype in male family members also affect female carriers... - Seroprevalence of antibodies to HTLV-I in patients with chronic neurological disorders other than tropical spastic paraparesisC A Mora
Laboratory of Central Nervous System Studies, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD 20892
Ann Neurol 23:S192-5. 1988..The seropositivity of the 7 Jamaican patients with polymyositis requires further study... - Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 familiesL G Goldfarb
Laboratory of CNS Studies, NINDS, NIH, Bethesda, MD 20892
Eur J Epidemiol 7:477-86. 1991.... - Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui diseaseO Vasconcelos
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 92:10322-6. 1995..Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene... - Detection of flaviviruses by reverse-transcriptase polymerase chain reactionZ A Eldadah
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland 20892
J Med Virol 33:260-7. 1991.... - Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibilityT K Oleksyk
Laboratory of Genomic Diversity, National Cancer Institute at Frederick, NIH, MD 21702-1201, USA
Eur J Immunogenet 31:121-8. 2004..Exclusion of these eight genes based on the lack of association has important implications for identifying the disease agent, as well as prescribing therapy and understanding Viliuisk encephalomyelitis... - Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1L G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, Bethesda, MD USA
Ann Neurol 39:500-6. 1996..In 2 symptomatic individuals who had an expanded number of CAG repeats on both chromosomes, age at onset, rate of progression, and clinical manifestation corresponded to the size of the larger allele... - Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphismL G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892
Science 258:806-8. 1992..Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism... - A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush Dagvadorj
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
J Neurol 251:143-9. 2004..The high pathogenic potential of this mutation can be explained by its location in the highly conserved YRKLLEGEE motif at the C-terminal end of the 2B helix that has a critical role in the process of desmin filament assembly... - T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositisM Salajegheh
Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Neurology 69:1672-9. 2007..Sporadic IBM (sIBM) is characterized by invasion of non-necrotic MHC-I class-expressing muscle fibers by clonally expanded CD8+ cells. Whether the endomysial cells expand in situ or are recruited from the circulation is unclear... - Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segmentAyush Dagvadorj
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
Muscle Nerve 27:669-75. 2003.... - Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutationsMarinos C Dalakas
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4B37, 10 Central Drive, MSC 1361, Bethesda, MD 20892, USA
Neuromuscul Disord 13:252-8. 2003..Progressive skeletal myopathy is a rare phenotypic variant of desmin myopathy allelic to the more frequent cardio-skeletal form... - Gluten sensitivity in sporadic and hereditary cerebellar ataxiaK O Bushara
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1428, USA
Ann Neurol 49:540-3. 2001..Patients with hereditary ataxia (including asymptomatic patients with known ataxia genotype) should be considered for screening for gluten sensitivity and gluten-free diet trials... - Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
Neuromuscul Disord 20:438-42. 2010..The study underlines the importance of parental evaluation as it may have implications for genetic counseling... 
Epidemiology of Viliuisk encephalomyelitis in Eastern SiberiaHee Suk Lee
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
Epidemiology 21:24-30. 2010..Although clinical, neuropathologic, and epidemiologic data suggest infectious etiology, multiple attempts at pathogen isolation have been unsuccessful...- Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23Alexey Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA
Brain 129:2318-31. 2006..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene... - In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
Eur J Hum Genet 17:656-63. 2009..The study results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM... - Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathyAyush Dagvadorj
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Ann Neurol 52:355-9. 2002..We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events... - Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american populationNyamkhishig Sambuughin
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 9404, USA
Anesthesiology 102:515-21. 2005..The authors sought to develop a reliable genetic screening strategy based on efficient and relatively inexpensive mutation-detection procedures... - Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau
EA300, , Paris, France
Hum Mutat 27:906-13. 2006..Mutations within the highly conserved alpha-helical structures are especially damaging since the integrity of the alpha-helix is critical for desmin filament assembly and stability... - Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutationManuel Arias
Department of Neurology, Hospital Clinico Universitario de Santiago de Compostela, Travesia da Choupana s n, 15706 Santiago de Compostela, Spain
Neuromuscul Disord 16:498-503. 2006..Because the only family previously identified with this mutation was limited to one studied patient, the present kindred represents the largest clinical investigation of the phenotype associated with the L370P mutation... - Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP depositsMonica Colucci
Department of Neurology, University of Genoa, Genoa, Italy, and Pikeville Neurology Clinic and Diagnostic Center, Pikeville, Kentucky, USA
J Neuropathol Exp Neurol 65:642-51. 2006..PK-resistant PrP recovered from the plaque and curly staining regions appeared to be full length... - Myotilinopathy: refining the clinical and myopathological phenotypeMontse Olive
Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
Brain 128:2315-26. 2005.... - Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathiesChristoph S Clemen
Department of Neurology, Medical Faculty, University of Bonn, Sigmund Freud Str. 25, 53127 Bonn, FRG
FEBS Lett 579:3777-82. 2005..They indicated a shift of the main hsp27-spot to alkaline pH degrees, which may help to differentiate primary desminopathies from other myopathies with structural pathology of the desmin cytoskeleton... - Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsKumaraswamy Sivakumar
Barrow Neurological Institute, Phoenix, AZ, USA
Brain 128:2304-14. 2005..Awareness of these overlapping clinical phenotypes associated with mutations in GARS will facilitate identification of this disorder in additional families and direct future research toward better understanding of its pathogenesis... - Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathyStefan Hager
Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany
Circulation 113:e53-5. 2006 - Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathyAnna Kaminska
Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland
Hum Genet 114:306-13. 2004..This study provides insights into molecular pathogenetic mechanisms of desmin mutation-associated skeletal and cardioskeletal myopathy... - Different early pathogenesis in myotilinopathy compared to primary desminopathyDirk Fischer
Muskellabor, Department of Neurology, University of Bonn, Bonn, Germany
Neuromuscul Disord 16:361-7. 2006..These findings suggest that unrelated molecular pathways may result in seemingly similar disease phenotypes at late disease stages... - Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutationPiotr Pruszczyk
Department of Internal Medicine, Hypertension and Angiology, Medical University of Warsaw, Warsaw, Poland
Int J Cardiol 117:244-53. 2007..We evaluated a family with restrictive cardiomyopathy (RCM) associated with a novel desmin mutation and reviewed recent reports regarding the frequency of RCM in patients with desmin myopathy... - The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutationAlexandra Vrabie
Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
Acta Neuropathol 109:411-7. 2005....