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Lev Goldfarb

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

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Physiology

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Publications

TOP 3
Goldfarb Lev G; Dalakas Marinos C
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Piñol-Ripoll Gerard; Shatunov Alexey; Cabello Ana; Larrodé Pilar; de la Puerta Iris; Pelegrín Juana; Ramos Feliciano J; Olivé Montse; Goldfarb Lev G
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Shatunov Alexey; Olivé Montse; Odgerel Zagaa; Stadelmann-Nessler Christine; Irlbacher Kerstin; van Landeghem Frank; Bayarsaikhan Munkhuu; Lee Hee-Suk; Goudeau Bertrand; Chinnery Patrick F; Straub Volker; Hilton-Jones David; Damian Maxwell S; Kaminska Anna; Vicart Patrick; Bushby Kate; Dalakas Marinos C; Sambuughin Nyamkhishig; Ferrer Isidro; Goebel Hans H; Goldfarb Lev G
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

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All Publications

2009: Goldfarb Lev G; Dalakas Marinos C
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
The Journal of clinical investigation 2009;119(7):1806-13.
2009: Piñol-Ripoll Gerard; Shatunov Alexey; Cabello Ana; Larrodé Pilar; de la Puerta Iris; Pelegrín Juana; Ramos Feliciano J; Olivé Montse; Goldfarb Lev G
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Neuromuscular disorders : NMD 2009;19(6):418-22.
2009: Shatunov Alexey; Olivé Montse; Odgerel Zagaa; Stadelmann-Nessler Christine; Irlbacher Kerstin; van Landeghem Frank; Bayarsaikhan Munkhuu; Lee Hee-Suk; Goudeau Bertrand; Chinnery Patrick F; Straub Volker; Hilton-Jones David; Damian Maxwell S; Kaminska Anna; Vicart Patrick; Bushby Kate; Dalakas Marinos C; Sambuughin Nyamkhishig; Ferrer Isidro; Goebel Hans H; Goldfarb Lev G
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
European journal of human genetics : EJHG 2009;17(5):656-63.
2009: Gamez Josep; Armstrong Judith; Shatunov Alexey; Selva-O'Callaghan Albert; Dominguez-Oronoz Rosa; Ortega Arantxa; Goldfarb Lev; Ferrer Isidre; Olivé Montse
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Journal of the neurological sciences 2009;277(1-2):167-71.
2008: Olivé Montse; Shatunov Alexey; Gonzalez Laura; Carmona Olga; Moreno Dolores; Quereda Lidia Gonzalez; Martinez-Matos J A; Goldfarb Lev G; Ferrer Isidro
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
Neuromuscular disorders : NMD 2008;18(12):929-33.
2008: Goldfarb Lev G; Olivé Montse; Vicart Patrick; Goebel Hans H
Intermediate filament diseases: desminopathy.
Advances in experimental medicine and biology 2008;642():131-64.
2007: Salajegheh M; Rakocevic G; Raju R; Shatunov A; Goldfarb L G; Dalakas M C
T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis.
Neurology 2007;69(17):1672-9.
2007: Vladimirtsev Vsevolod A; Nikitina Raisa S; Renwick Neil; Ivanova Anastasia A; Danilova Al'bina P; Platonov Fyodor A; Krivoshapkin Vadim G; McLean Catriona A; Masters Colin L; Gajdusek D Carleton; Goldfarb Lev G
Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions.
Emerging infectious diseases 2007;13(9):1321-6.
2007: Olivé Montse; Armstrong Judith; Miralles Francesc; Pou Adolf; Fardeau Michel; Gonzalez Laura; Martínez Francesca; Fischer Dirk; Martínez Matos Juan Antonio; Shatunov Alexey; Goldfarb Lev; Ferrer Isidre
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
Neuromuscular disorders : NMD 2007;17(6):443-50.
2007: Dalakas Marinos C; Rakocevic Goran; Shatunov Alexey; Goldfarb Lev; Raju Raghavan; Salajegheh Mohammad
Inclusion body myositis with human immunodeficiency virus infection: four cases with clonal expansion of viral-specific T cells.
Annals of neurology 2007;61(5):466-75.
2007: Bär Harald; Goudeau Bertrand; Wälde Sarah; Casteras-Simon Monique; Mücke Norbert; Shatunov Alexey; Goldberg Y Paul; Clarke Charles; Holton Janice L; Eymard Bruno; Katus Hugo A; Fardeau Michel; Goldfarb Lev; Vicart Patrick; Herrmann Harald
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Human mutation 2007;28(4):374-86.
2007: Pruszczyk Piotr; Kostera-Pruszczyk Anna; Shatunov Alexey; Goudeau Bertrand; Dramiñska Agnieszka; Takeda Kazuyo; Sambuughin Nyamkhishig; Vicart Patrick; Strelkov Sergei V; Goldfarb Lev G; Kamiñska Anna
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.
International journal of cardiology 2007;117(2):244-53.
2006: Kostareva A; Gudkova A; Sjoberg G; Kiselev I; Moiseeva O; Karelkina E; Goldfarb L; Schlyakhto E; Sejersen T
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2006;25(3):109-15.
2006: Antonellis Anthony; Lee-Lin Shih-Queen; Wasterlain Amy; Leo Paul; Quezado Martha; Goldfarb Lev G; Myung Kyungjae; Burgess Shawn; Fischbeck Kenneth H; Green Eric D
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(41):10397-406.
2006: Goudeau Bertrand; Rodrigues-Lima Fernando; Fischer Dirk; Casteras-Simon Monique; Sambuughin Nyamkhishig; de Visser Marianne; Laforet Pascal; Ferrer Xavier; Chapon Françoise; Sjöberg Gunnar; Kostareva Anna; Sejersen Thomas; Dalakas Marinos C; Goldfarb Lev G; Vicart Patrick
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Human mutation 2006;27(9):906-13.
2006: Shatunov Alexey; Sambuughin Nyamkhishig; Jankovic Joseph; Elble Rodger; Lee Hee Suk; Singleton Andrew B; Dagvadorj Ayush; Ji Jay; Zhang Yiping; Kimonis Virginia E; Hardy John; Hallett Mark; Goldfarb Lev G
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
Brain : a journal of neurology 2006;129(Pt 9):2318-31.
2006: Colucci Monica; Moleres Francisco J; Xie Zhi-Liang; Ray-Chaudhury Abhik; Gutti Sujata; Butefisch Cathrin M; Cervenakova Larisa; Wang Wen; Goldfarb Lev G; Kong Qingzhong; Ghetti Bernardino; Chen Shu G; Gambetti Pierluigi
Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.
Journal of neuropathology and experimental neurology 2006;65(7):642-51.
2006: Fischer Dirk; Clemen Christoph S; Olivé Montse; Ferrer Isidro; Goudeau Bertrand; Roth Udo; Badorf Petra; Wattjes Mike P; Lutterbey Götz; Kral Thomas; van der Ven Peter F M; Fürst Dieter O; Vicart Patrick; Goldfarb Lev G; Moza Monica; Carpen Olli; Reichelt Julia; Schröder Rolf
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Neuromuscular disorders : NMD 2006;16(6):361-7.
2006: Muntoni F; Bonne G; Goldfarb L G; Mercuri E; Piercy R J; Burke M; Yaou R Ben; Richard P; Récan D; Shatunov A; Sewry C A; Brown S C
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Brain : a journal of neurology 2006;129(Pt 5):1260-8.
2005: Shatunov A; Jankovic J; Elble R; Sambuughin N; Singleton A; Hallett M; Goldfarb L
A variant in the HS1-BP3 gene is associated with familial essential tremor.
Neurology 2005;65(12):1995; author reply 1995.
2005: D'Amico A; Benedetti S; Petrini S; Sambuughin N; Boldrini R; Menditto I; Ferrari M; Verardo M; Goldfarb L; Bertini E
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
Neuromuscular disorders : NMD 2005;15(12):847-50.
2005: Sivakumar Kumaraswamy; Kyriakides Theodoros; Puls Imke; Nicholson Garth A; Funalot Benoît; Antonellis Anthony; Sambuughin Nyamkhishig; Christodoulou Kyproula; Beggs John L; Zamba-Papanicolaou Eleni; Ionasescu Victor; Dalakas Marinos C; Green Eric D; Fischbeck Kenneth H; Goldfarb Lev G
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Brain : a journal of neurology 2005;128(Pt 10):2304-14.
2005: Olivé Montse; Goldfarb Lev G; Shatunov Alexey; Fischer Dirk; Ferrer Isidro
Myotilinopathy: refining the clinical and myopathological phenotype.
Brain : a journal of neurology 2005;128(Pt 10):2315-26.
2005: Clemen Christoph S; Fischer Dirk; Roth Udo; Simon Stéphanie; Vicart Patrick; Kato Kanefusa; Kaminska Anna M; Vorgerd Matthias; Goldfarb Lev G; Eymard Bruno; Romero Norma B; Goudeau Bertrand; Eggermann Thomas; Zerres Klaus; Noegel Angelika A; Schröder Rolf
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.
FEBS letters 2005;579(17):3777-82.
2005: Vrabie Alexandra; Goldfarb Lev G; Shatunov Alexey; Nägele Andrea; Fritz Peter; Kaczmarek Ingo; Goebel Hans H
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
Acta neuropathologica 2005;109(4):411-7.
2005: Sambuughin Nyamkhishig; Holley Heather; Muldoon Sheila; Brandom Barbara W; de Bantel Astrid M; Tobin Joseph R; Nelson Tom E; Goldfarb Lev G
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Anesthesiology 2005;102(3):515-21.
2004: Shatunov A; Fridman E A; Pagan F I; Leib J; Singleton A; Hallett M; Goldfarb L G
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.
Clinical genetics 2004;66(6):496-501.
2004: Goldfarb L G; Cervenakova L; Gajdusek D C
Genetic studies in relation to kuru: an overview.
Current molecular medicine 2004;4(4):375-84.
2004: Oleksyk T K; Goldfarb L G; Sivtseva T; Danilova A P; Osakovsky V L; Shrestha S; O'Brien S J; Smith M W
Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibility.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 2004;31(3):121-8.
2004: Luethje Lars G C; Boennemann Carsten; Goldfarb Lev; Goebel Hans H; Halle Martin
Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy.
Pacing and clinical electrophysiology : PACE 2004;27(4):559-60.
2004: Olivé Montse; Goldfarb Lev; Moreno Dolores; Laforet Encarna; Dagvadorj Ayush; Sambuughin Nyamkhishig; Martínez-Matos Juan Antonio; Martínez Francesca; Alió Josefina; Farrero Eva; Vicart Patrick; Ferrer Isidro
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
Journal of the neurological sciences 2004;219(1-2):125-37.
2004: Goldfarb L G; Vicart P; Goebel H H; Dalakas M C
Desmin myopathy.
Brain : a journal of neurology 2004;127(Pt 4):723-34.
2004: Huizing Marjan; Rakocevic Goran; Sparks Susan E; Mamali Ioanna; Shatunov Alexey; Goldfarb Lev; Krasnewich Donna; Gahl William A; Dalakas Marinos C
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Molecular genetics and metabolism 2004;81(3):196-202.
2004: Dagvadorj Ayush; Olivé Montse; Urtizberea Jean-Andoni; Halle Martin; Shatunov Alexey; Bönnemann Carsten; Park Kye-Yoon; Goebel Hans H; Ferrer Isidro; Vicart Patrick; Dalakas Marinos C; Goldfarb Lev G
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
Journal of neurology 2004;251(2):143-9.
2004: Kaminska Anna; Strelkov Sergei V; Goudeau Bertrand; Olivé Montse; Dagvadorj Ayush; Fidzianska Anna; Simon-Casteras Monique; Shatunov Alexey; Dalakas Marinos C; Ferrer Isidro; Kwiecinski Hubert; Vicart Patrick; Goldfarb Lev G
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Human genetics 2004;114(3):306-13.
2003: Mulligan Connie J; Robin Robert W; Osier Michael V; Sambuughin Nyamkhishig; Goldfarb Lev G; Kittles Rick A; Hesselbrock Diane; Goldman David; Long Jeffrey C
Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.
Human genetics 2003;113(4):325-36.
2003: Green Alison J E; Sivtseva Tatiana M; Danilova Al'bina P; Osakovsky Vladimir L; Vladimirtsev Vsevolod A; Zeidler Martin; Knight Richard S; Platonov Feodor A; Shatunov Alexey; Alekseev Vasiliy P; Krivoshapkin Vadim G; Masters Colin L; Gajdusek D Carleton; Goldfarb Lev G
Viliuisk encephalomyelitis: intrathecal synthesis of oligoclonal IgG.
Journal of the neurological sciences 2003;212(1-2):69-73.
2003: Olivé Montse; Goldfarb Lev; Dagvadorj Ayush; Sambuughin Nyamkhishig; Paulin Denise; Li Zhenlin; Goudeau Bertrand; Vicart Patrick; Ferrer Isidro
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.
Acta neuropathologica 2003;106(1):1-7.
2003: Dagvadorj Ayush; Goudeau Bertrand; Hilton-Jones David; Blancato Jan K; Shatunov Alexey; Simon-Casteras Monique; Squier Waney; Nagle James W; Goldfarb Lev G; Vicart Patrick
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Muscle & nerve 2003;27(6):669-75.
2003: Antonellis Anthony; Ellsworth Rachel E; Sambuughin Nyamkhishig; Puls Imke; Abel Annette; Lee-Lin Shih-Queen; Jordanova Albena; Kremensky Ivo; Christodoulou Kyproula; Middleton Lefkos T; Sivakumar Kumaraswamy; Ionasescu Victor; Funalot Benoit; Vance Jeffery M; Goldfarb Lev G; Fischbeck Kenneth H; Green Eric D
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
American journal of human genetics 2003;72(5):1293-9.
2003: Dalakas Marinos C; Dagvadorj Ayush; Goudeau Bertrand; Park Kye-Yoon; Takeda Kazuyo; Simon-Casteras Monique; Vasconcelos Olavo; Sambuughin Nyamkhishig; Shatunov Alexey; Nagle James W; Sivakumar Kumaraswamy; Vicart Patrick; Goldfarb Lev G
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
Neuromuscular disorders : NMD 2003;13(3):252-8.
2003: Uspensky Igor; Garruto Ralph M; Goldfarb Lev
The taiga tick Ixodes persulcatus (Acari: Ixodidae) in the Sakha Republic (Yakutia) of Russia: distributional and reproductive ranges.
Journal of medical entomology 2003;40(1):119-22.
2002: Dagvadorj Ayush; Petersen Robert B; Lee Hee Suk; Cervenakova Larisa; Shatunov Alexey; Budka Herbert; Brown Paul; Gambetti Pierluigi; Goldfarb Lev G
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
Annals of neurology 2002;52(3):355-9.
2002: Goldfarb Lev G
Kuru: the old epidemic in a new mirror.
Microbes and infection / Institut Pasteur 2002;4(8):875-82.
2002: Goldfarb Lev G
Genetics and infectious disease: convergence at the prion.
Epidemiology (Cambridge, Mass.) 2002;13(4):379-81.
2002: Branton Mary H; Schiffmann Raphael; Sabnis Sharda G; Murray Gary J; Quirk Jane M; Altarescu Gheona; Goldfarb Lev; Brady Roscoe O; Balow James E; Austin Iii Howard A; Kopp Jeffrey B
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Medicine 2002;81(2):122-38.
2001: Goudeau B; Dagvadorj A; Rodrigues-Lima F; Nédellec P; Casteras-Simon M; Perret E; Langlois S; Goldfarb L; Vicart P
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Human mutation 2001;18(5):388-96.
2001: Sambuughin N; Nelson T E; Jankovic J; Xin C; Meissner G; Mullakandov M; Ji J; Rosenberg H; Sivakumar K; Goldfarb L G
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Neuromuscular disorders : NMD 2001;11(6-7):530-7.
2001: Goebel H H; Halbig L E; Goldfarb L; Schober R; Albani M; Neuen-Jacob E; Voit T
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.
Neuropediatrics 2001;32(4):196-205.
2001: Altarescu G M; Goldfarb L G; Park K Y; Kaneski C; Jeffries N; Litvak S; Nagle J W; Schiffmann R
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Clinical genetics 2001;60(1):46-51.
2001: Zhou Y X; Qiao W H; Gu W H; Xie H; Tang B S; Zhou L S; Yang B X; Takiyama Y; Tsuji S; He H Y; Deng C X; Goldfarb L G; Wang G X
Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.
Archives of neurology 2001;58(5):789-94.
2001: Bushara K O; Goebel S U; Shill H; Goldfarb L G; Hallett M
Gluten sensitivity in sporadic and hereditary cerebellar ataxia.
Annals of neurology 2001;49(4):540-3.
2001: Lee H S; Brown P; Cervenáková L; Garruto R M; Alpers M P; Gajdusek D C; Goldfarb L G
Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.
The Journal of infectious diseases 2001;183(2):192-196.
2000: Park K Y; Dalakas M C; Goebel H H; Ferrans V J; Semino-Mora C; Litvak S; Takeda K; Goldfarb L G
Desmin splice variants causing cardiac and skeletal myopathy.
Journal of medical genetics 2000;37(11):851-7.
2000: Cervenakova L; Protas I I; Hirano A; Votiakov V I; Nedzved M K; Kolomiets N D; Taller I; Park K Y; Sambuughin N; Gajdusek D C; Brown P; Goldfarb L G
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS).
Journal of the neurological sciences 2000;177(2):124-30.
2000: Bütefisch C M; Gambetti P; Cervenakova L; Park K Y; Hallett M; Goldfarb L G
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.
Neurology 2000;55(4):517-22.
2000: Park K Y; Dalakas M C; Semino-Mora C; Lee H S; Litvak S; Takeda K; Ferrans V J; Goldfarb L G
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Clinical genetics 2000;57(6):423-9.
2000: Majtényi C; Brown P; Cervenáková L; Goldfarb L G; Tateishi J
A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.
Neurology 2000;54(11):2133-7.
2000: Dalakas M C; Park K Y; Semino-Mora C; Lee H S; Sivakumar K; Goldfarb L G
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
The New England journal of medicine 2000;342(11):770-80.
1999: Cervenáková L; Buetefisch C; Lee H S; Taller I; Stone G; Gibbs C J; Brown P; Hallett M; Goldfarb L G
Novel PRNP sequence variant associated with familial encephalopathy.
American journal of medical genetics 1999;88(6):653-6.
1999: Sivakumar K; Sambuughin N; Selenge B; Nagle J W; Baasanjav D; Hudson L D; Goldfarb L G
Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
Annals of neurology 1999;45(5):680-3.
1999: Lee H S; Sambuughin N; Cervenakova L; Chapman J; Pocchiari M; Litvak S; Qi H Y; Budka H; del Ser T; Furukawa H; Brown P; Gajdusek D C; Long J C; Korczyn A D; Goldfarb L G
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.
American journal of human genetics 1999;64(4):1063-70.
1998: Sambuughin N; Sivakumar K; Selenge B; Lee H S; Friedlich D; Baasanjav D; Dalakas M C; Goldfarb L G
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.
Journal of the neurological sciences 1998;161(1):23-8.
1998: Cervenáková L; Goldfarb L G; Garruto R; Lee H S; Gajdusek D C; Brown P
Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(22):13239-41.
1998: Zhou Y X; Wang G X; Tang B S; Li W D; Wang D A; Lee H S; Sambuughin N; Zhou L S; Tsuji S; Yang B X; Goldfarb L G
Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.
Neurology 1998;51(2):595-8.
1998: Chapman J; Cervenáková L; Petersen R B; Lee H S; Estupinan J; Richardson S; Vnencak-Jones C L; Gajdusek D C; Korczyn A D; Brown P; Goldfarb L G
APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies.
Neurology 1998;51(2):548-53.
1998: Goldfarb L G; Park K Y; Cervenáková L; Gorokhova S; Lee H S; Vasconcelos O; Nagle J W; Semino-Mora C; Sivakumar K; Dalakas M C
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Nature genetics 1998;19(4):402-3.
1998: Brown P; Cervenáková L; McShane L; Goldfarb L G; Bishop K; Bastian F; Kirkpatrick J; Piccardo P; Ghetti B; Gajdusek D C
Creutzfeldt-Jakob disease in a husband and wife.
Neurology 1998;50(3):684-8.
1997: McLean C A; Masters C L; Vladimirtsev V A; Prokhorova I A; Goldfarb L G; Asher D M; Vladimirtsev A I; Alekseev V P; Gajdusek D C
Viliuisk encephalomyelitis--review of the spectrum of pathological changes.
Neuropathology and applied neurobiology 1997;23(3):212-7.
1996: Cochran E J; Bennett D A; Cervenáková L; Kenney K; Bernard B; Foster N L; Benson D F; Goldfarb L G; Brown P
Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.
Neurology 1996;47(3):727-33.
1996: Cervernáková L; Sivakumar K; Nagle J; Dalakas M C; Goldfarb L G
Is hereditary inclusion body myopathy a "familial prion disease" ?
Annals of neurology 1996;40(1):128.
1996: Sivakumar K; Vasconcelos O; Goldfarb L; Dalakas M C
Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
Neurology 1996;46(5):1337-42.
1996: Goldfarb L G; Vasconcelos O; Platonov F A; Lunkes A; Kipnis V; Kononova S; Chabrashvili T; Vladimirtsev V A; Alexeev V P; Gajdusek D C
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
Annals of neurology 1996;39(4):500-6.
1996: Chapman J; Arlazoroff A; Goldfarb L G; Cervenakova L; Neufeld M Y; Werber E; Herbert M; Brown P; Gajdusek D C; Korczyn A D
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.
Neurology 1996;46(3):758-61.
1996: Higgins J J; Nee L E; Vasconcelos O; Ide S E; Lavedan C; Goldfarb L G; Polymeropoulos M H
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.
Neurology 1996;46(1):208-13.
1995: Lou J S; Goldfarb L; McShane L; Gatev P; Hallett M
Use of buspirone for treatment of cerebellar ataxia. An open-label study.
Archives of neurology 1995;52(10):982-8.
1995: Vasconcelos O; Sivakumar K; Dalakas M C; Quezado M; Nagle J; Leon-Monzon M; Dubnick M; Gajdusek D C; Goldfarb L G
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.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(22):10322-6.
1995: Sivakumar K; Cervenáková L; Dalakas M C; Leon-Monzon M; Isaacson S H; Nagle J W; Vasconcelos O; Goldfarb L G
Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.
Annals of neurology 1995;38(2):267-9.
1995: Goldfarb L G; Brown P
The transmissible spongiform encephalopathies.
Annual review of medicine 1995;46():57-65.
1994: Cervenáková L; Brown P; Goldfarb L G; Nagle J; Pettrone K; Rubenstein R; Dubnick M; Gibbs C J; Gajdusek D C
Infectious amyloid precursor gene sequences in primates used for experimental transmission of human spongiform encephalopathy.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(25):12159-62.
1994: Haltia M; Viitanen M; Sulkava R; Ala-Hurula V; Poyhonen M; Goldfarb L; Brown P; Levy E; Houlden H; Crook R
Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.
Annals of neurology 1994;36(3):362-7.
1994: Brown P; Cervenáková L; Boellaard J W; Stavrou D; Goldfarb L G; Gajdusek D C
Identification of a PRNP gene mutation in Jakob's original Creutzfeldt-Jakob disease family.
Lancet 1994;344(8915):130-1.
1994: Brown P; Gibbs C J; Rodgers-Johnson P; Asher D M; Sulima M P; Bacote A; Goldfarb L G; Gajdusek D C
Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease.
Annals of neurology 1994;35(5):513-29.
1994: Petersen R B; Goldfarb L G; Tabaton M; Brown P; Monari L; Cortelli P; Montagna P; Autilio-Gambetti L; Gajdusek D C; Lugaresi E
A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene).
Molecular neurobiology 1994;8(2-3):99-103.
1994: Goldfarb L G; Brown P; Cervenakova L; Gajdusek D C
Molecular genetic studies of Creutzfeldt-Jakob disease.
Molecular neurobiology 1994;8(2-3):89-97.
1994: Lunkes A; Goldfarb L G; Platonov F A; Alexeev V P; Duenas-Barajas E; Gajdusek D C; Auburger G
Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus.
Experimental neurology 1994;126(2):310-2.
1994: Goldfarb L G; Brown P; Cervenakova L; Gajdusek D C
Genetic analysis of Creutzfeldt-Jakob disease and related disorders.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1994;343(1306):379-84.
1994: Brown P; Cervenáková L; Goldfarb L G; McCombie W R; Rubenstein R; Will R G; Pocchiari M; Martinez-Lage J F; Scalici C; Masullo C
Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine.
Neurology 1994;44(2):291-3.
1994: Brown P; Cervenáková L; Goldfarb L G; Gajdusek D C; Haverkamp A; Haverkamp C; Horwitz J; Creacy S D; Bever R A; Wexler P
Molecular genetic testing of a fetus at risk of Gerstmann-Sträussler-Scheinker syndrome.
Lancet 1994;343(8890):181-2.
1993: Goldfarb L G; Brown P; Little B W; Cervenáková L; Kenney K; Gibbs C J; Gajdusek D C
A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease.
Neurology 1993;43(11):2392-4.
1993: Chapman J; Brown P; Goldfarb L G; Arlazoroff A; Gajdusek D C; Korczyn A D
Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.
Journal of neurology, neurosurgery, and psychiatry 1993;56(10):1109-12.
1993: Saunders A M; Schmader K; Breitner J C; Benson M D; Brown W T; Goldfarb L; Goldgaber D; Manwaring M G; Szymanski M H; McCown N
Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases.
Lancet 1993;342(8873):710-1.
1993: Taller A M; Xiao S Y; Godec M S; Gligic A; Avsic-Zupanc T; Goldfarb L G; Yanagihara R; Asher D M
Belgrade virus, a cause of hemorrhagic fever with renal syndrome in the Balkans, is closely related to Dobrava virus of field mice.
The Journal of infectious diseases 1993;168(3):750-3.
1993: Goldfarb L G; Brown P; Haltia M; Ghiso J; Frangione B; Gajdusek D C
Synthetic peptides corresponding to different mutated regions of the amyloid gene in familial Creutzfeldt-Jakob disease show enhanced in vitro formation of morphologically different amyloid fibrils.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(10):4451-4.
1993: Brown P; Kaur P; Sulima M P; Goldfarb L G; Gibbs C J; Gajdusek D C
Real and imagined clinicopathological limits of "prion dementia".
Lancet 1993;341(8838):127-9.
1992: Brown P; Gálvez S; Goldfarb L G; Nieto A; Cartier L; Gibbs C J; Gajdusek D C
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.
Journal of the neurological sciences 1992;112(1-2):65-7.
1992: Goldfarb L G; Petersen R B; Tabaton M; Brown P; LeBlanc A C; Montagna P; Cortelli P; Julien J; Vital C; Pendelbury W W
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
Science (New York, N.Y.) 1992;258(5083):806-8.
1992: Goldfarb L G; Brown P; Vrbovská A; Baron H; McCombie W R; Cathala F; Gibbs C J; Gajdusek D C
An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family.
Journal of the neurological sciences 1992;111(2):189-94.
1992: Goldfarb L G; Gajdusek D C
Viliuisk encephalomyelitis in the Iakut people of Siberia.
Brain : a journal of neurology 1992;115 ( Pt 4)():961-78.
1992: Brown P; Goldfarb L G; Kovanen J; Haltia M; Cathala F; Sulima M; Gibbs C J; Gajdusek D C
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation.
Annals of neurology 1992;31(3):282-5.
1992: Goldfarb L G; Brown P; Haltia M; Cathala F; McCombie W R; Kovanen J; Cervenáková L; Goldin L; Nieto A; Godec M S
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.
Annals of neurology 1992;31(3):274-81.
1992: Brown P; Goldfarb L G; McCombie W R; Nieto A; Squillacote D; Sheremata W; Little B W; Godec M S; Gibbs C J; Gajdusek D C
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene.
Neurology 1992;42(2):422-7.
1991: Goldfarb L G; Brown P; McCombie W R; Goldgaber D; Swergold G D; Wills P R; Cervenakova L; Baron H; Gibbs C J; Gajdusek D C
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(23):10926-30.
1991: Brown P; Goldfarb L G; Cathala F; Vrbovská A; Sulima M; Nieto A; Gibbs C J; Gajdusek D C
The molecular genetics of familial Creutzfeldt-Jakob disease in France.
Journal of the neurological sciences 1991;105(2):240-6.
1991: Haltia M; Kovanen J; Goldfarb L G; Brown P; Gajdusek D C
Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies.
European journal of epidemiology 1991;7(5):494-500.
1991: Goldfarb L G; Brown P; Mitrovà E; Cervenáková L; Goldin L; Korczyn A D; Chapman J; Gálvez S; Cartier L; Rubenstein R
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.
European journal of epidemiology 1991;7(5):477-86.
1991: Brown P; Goldfarb L G; Gibbs C J; Gajdusek D C
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.
European journal of epidemiology 1991;7(5):469-76.
1991: Eldadah Z A; Asher D M; Godec M S; Pomeroy K L; Goldfarb L G; Feinstone S M; Levitan H; Gibbs C J; Gajdusek D C
Detection of flaviviruses by reverse-transcriptase polymerase chain reaction.
Journal of medical virology 1991;33(4):260-7.
1991: Brown P; Goldfarb L G; Gajdusek D C
The new biology of spongiform encephalopathy: infectious amyloidoses with a genetic twist.
Lancet 1991;337(8748):1019-22.
1991: Brown P; Goldfarb L G; Brown W T; Goldgaber D; Rubenstein R; Kascsak R J; Guiroy D C; Piccardo P; Boellaard J W; Gajdusek D C
Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome.
Neurology 1991;41(3):375-9.
1991: Nieto A; Goldfarb L G; Brown P; McCombie W R; Trapp S; Asher D M; Gajdusek D C
Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families.
Lancet 1991;337(8741):622-3.
1991: Speer M C; Goldgaber D; Goldfarb L G; Roses A D; Pericak-Vance M A
Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
Genomics 1991;9(2):366-8.
1991: Goldfarb L G; Haltia M; Brown P; Nieto A; Kovanen J; McCombie W R; Trapp S; Gajdusek D C
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
Lancet 1991;337(8738):425.
1991: Gajdusek D C; Beyreuther K; Brown P; Cork L C; Cunningham D D; Frangione B; Gibbs C J; Goldfarb L G; Goldgaber D; Hsiao K K
Regulation and genetic control of brain amyloid. FESN Study Group.
Brain research. Brain research reviews 1991;16(1):83-114.
1990: Goldfarb L G; Brown P; Goldgaber D; Garruto R M; Yanagihara R; Asher D M; Gajdusek D C
Identical mutation in unrelated patients with Creutzfeldt-Jakob disease.
Lancet 1990;336(8708):174-5.
1990: Goldfarb L G; Brown P; Goldgaber D; Asher D M; Rubenstein R; Brown W T; Piccardo P; Kascsak R J; Boellaard J W; Gajdusek D C
Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome.
Experimental neurology 1990;108(3):247-50.
1990: Godec M S; Asher D M; Swoveland P T; Eldadah Z A; Feinstone S M; Goldfarb L G; Gibbs C J; Gajdusek D C
Detection of measles virus genomic sequences in SSPE brain tissue by the polymerase chain reaction.
Journal of medical virology 1990;30(4):237-44.
1989: Goldfarb L G; Chumakov M P; Petrov P A; Fedorova N I; Gajdusek D C
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia.
Neurology 1989;39(11):1527-30.
1989: Goldgaber D; Goldfarb L G; Brown P; Asher D M; Brown W T; Lin S; Teener J W; Feinstone S M; Rubenstein R; Kascsak R J
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.
Experimental neurology 1989;106(2):204-6.
1988: Mora C A; Garruto R M; Brown P; Guiroy D; Morgan O S; Rodgers-Johnson P; Ceroni M; Yanagihara R; Goldfarb L G; Gibbs C J
Seroprevalence of antibodies to HTLV-I in patients with chronic neurological disorders other than tropical spastic paraparesis.
Annals of neurology 1988;23 Suppl():S192-5.

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