L G Goldfarb

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Genetics and infectious disease: convergence at the prion
    Lev 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
  2. pmc Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
    Lev G Goldfarb
    National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    J Clin Invest 119:1806-13. 2009
  3. pmc Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions
    Vsevolod A Vladimirtsev
    Institute of Health Sakha Yakut Republic, Yakutsk, Russian Federation
    Emerg Infect Dis 13:1321-6. 2007
  4. pmc Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
    Camilo Toro
    Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 13:29. 2013
  5. ncbi request reprint Kuru: the old epidemic in a new mirror
    Lev 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
  6. ncbi request reprint Desmin myopathy
    L G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 1361, USA
    Brain 127:723-34. 2004
  7. ncbi request reprint Genetic studies in relation to kuru: an overview
    L G Goldfarb
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Mol Med 4:375-84. 2004
  8. pmc Intermediate filament diseases: desminopathy
    Lev G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 9404, USA
    Adv Exp Med Biol 642:131-64. 2008
  9. pmc Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases
    Lev G Goldfarb
    National Institutes of Health, Room 4S06, 5625 Fishers Lane, MSC 9404, Bethesda, Maryland 20892 9404, USA
    Folia Neuropathol 47:171-81. 2009
  10. pmc Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease
    L 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

Collaborators

Detail Information

Publications56

  1. ncbi request reprint Genetics and infectious disease: convergence at the prion
    Lev 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
  2. pmc Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
    Lev 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...
  3. pmc Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions
    Vsevolod A Vladimirtsev
    Institute of Health Sakha Yakut Republic, Yakutsk, Russian Federation
    Emerg Infect Dis 13:1321-6. 2007
    ....
  4. pmc Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
    Camilo 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...
  5. ncbi request reprint Kuru: the old epidemic in a new mirror
    Lev 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...
  6. ncbi request reprint Desmin myopathy
    L 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...
  7. ncbi request reprint Genetic studies in relation to kuru: an overview
    L G Goldfarb
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Mol Med 4:375-84. 2004
    ....
  8. pmc Intermediate filament diseases: desminopathy
    Lev 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...
  9. pmc Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases
    Lev 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...
  10. pmc Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease
    L 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
    ..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...
  11. ncbi request reprint Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin
    L 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...
  12. ncbi request reprint Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype
    H 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...
  13. pmc Infectious amyloid precursor gene sequences in primates used for experimental transmission of human spongiform encephalopathy
    L 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
    ....
  14. pmc Desmin splice variants causing cardiac and skeletal myopathy
    K 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...
  15. ncbi request reprint Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    M 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...
  16. ncbi request reprint Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease
    P 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
    ....
  17. ncbi request reprint APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies
    J 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...
  18. pmc Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease
    H 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...
  19. ncbi request reprint Novel PRNP sequence variant associated with familial encephalopathy
    L 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...
  20. ncbi request reprint Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    L 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...
  21. ncbi request reprint Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
    G 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...
  22. ncbi request reprint Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families
    Y 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
    ....
  23. pmc Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene
    L 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...
  24. ncbi request reprint Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
    A 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...
  25. ncbi request reprint Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families
    L G Goldfarb
    Laboratory of CNS Studies, NINDS, NIH, Bethesda, MD 20892
    Eur J Epidemiol 7:477-86. 1991
    ....
  26. ncbi request reprint Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene
    P 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...
  27. ncbi request reprint Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome
    L G Goldfarb
    Laboratory of CNS Studies, NINDS, NIH, Bethesda, Maryland 20892
    Exp Neurol 108:247-50. 1990
    ....
  28. ncbi request reprint Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members
    K 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...
  29. pmc 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 disease
    O 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...
  30. ncbi request reprint Seroprevalence of antibodies to HTLV-I in patients with chronic neurological disorders other than tropical spastic paraparesis
    C 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...
  31. ncbi request reprint Detection of flaviviruses by reverse-transcriptase polymerase chain reaction
    Z 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
    ....
  32. ncbi request reprint Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
    L 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...
  33. ncbi request reprint Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibility
    T 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...
  34. ncbi request reprint Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism
    L 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...
  35. ncbi request reprint A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin
    Ayush 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...
  36. ncbi request reprint T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis
    M 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...
  37. ncbi request reprint Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment
    Ayush 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
    ....
  38. ncbi request reprint Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
    Marinos 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...
  39. ncbi request reprint Gluten sensitivity in sporadic and hereditary cerebellar ataxia
    K 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...
  40. ncbi request reprint Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23
    Alexey 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...
  41. doi request reprint Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia
    Hee 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...
  42. pmc Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
    Zagaa 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...
  43. ncbi request reprint Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population
    Nyamkhishig 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...
  44. ncbi request reprint Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
    Ayush 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...
  45. pmc In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
    Alexey 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...
  46. ncbi request reprint Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
    Bertrand Goudeau
    EA300, Universite Paris 7 Denis Diderot, 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...
  47. ncbi request reprint Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
    Manuel 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...
  48. ncbi request reprint Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation
    Piotr 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...
  49. ncbi request reprint Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits
    Monica 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...
  50. ncbi request reprint Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy
    Stefan Hager
    Department of Cardiology, Robert Bosch Medical Center, Stuttgart, Germany
    Circulation 113:e53-5. 2006
  51. ncbi request reprint Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
    Kumaraswamy 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...
  52. ncbi request reprint Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
    Christoph 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...
  53. ncbi request reprint Myotilinopathy: refining the clinical and myopathological phenotype
    Montse Olive
    Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    Brain 128:2315-26. 2005
    ....
  54. ncbi request reprint The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation
    Alexandra Vrabie
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
    Acta Neuropathol 109:411-7. 2005
    ....
  55. ncbi request reprint Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
    Anna 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...
  56. ncbi request reprint Different early pathogenesis in myotilinopathy compared to primary desminopathy
    Dirk 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...