Publications by authors named "Lev Goldfarb"

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The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
André Macedo Serafim Silva, Patricia Rodrigo, Cristiane Araújo Martins Moreno, Rodrigo de Holanda Mendonça, Eduardo de Paula Estephan, Lev G Goldfarb

J Neuropathol Exp Neurol· August 2022

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Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.
Fedor A Platonov, Kathrin Tyryshkin, Dmitriy G Tikhonov, Tatyana S Neustroyeva, Tatyana M Sivtseva, Lev G Goldfarb

Neurogenetics· July 2016

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Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Nyamkhishig Sambuughin, Lev G Goldfarb, Tatiana M Sivtseva, Tatiana K Davydova, Vsevolod A Vladimirtsev

BMC Neurol· October 2015

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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
Gerald Pfeffer, Nyamkhishig Sambuughin, Montse Olivé, Felix Tyndel, Camilo Toro, Lev G Goldfarb

Neuromuscul Disord· March 2014

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Myofibrillar myopathies: new developments.
Montse Olivé, Rudolf A Kley, Lev G Goldfarb

Curr Opin Neurol· October 2013

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Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.
Paul Maddison, Maxwell S Damian, Caroline Sewry, Catherine McGorrian, John B Winer, Lev G Goldfarb

Eur Neurol· June 2013

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Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
Rudolf A Kley, Peter F M van der Ven, Montse Olivé, Jörg Höhfeld, Lev G Goldfarb

Autophagy· March 2013

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Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Camilo Toro, Montse Olivé, Marinos C Dalakas, Kumaraswami Sivakumar, Juan M Bilbao, Lev G Goldfarb

BMC Neurol· March 2013

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Filamin C-related myopathies: pathology and mechanisms.
Dieter O Fürst, Lev G Goldfarb, Rudolf A Kley, Matthias Vorgerd, Montse Olivé

Acta Neuropathol· January 2013

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Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population.
Zagaa Odgerel, Hee S Lee, Narnygerel Erdenebileg, Suren Gandbold, Munkhjargal Luvsanjamba, Lev G Goldfarb

J Diabetes· September 2012

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Rudolf A Kley, Piraye Serdaroglu-Oflazer, Yvonne Leber, Zagaa Odgerel, Peter F M van der Ven, Lev G Goldfarb

Brain· September 2012

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Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Giorgio Tasca, Zagaa Odgerel, Mauro Monforte, Stefania Aurino, Nigel F Clarke, Lev G Goldfarb

Muscle Nerve· August 2012

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KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Nyamkhishig Sambuughin, Wieslaw Swietnicki, Stephen Techtmann, Vera Matrosova, Tarina Wallace, Lev Goldfarb

Biochem Biophys Res Commun· May 2012

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Kuru: genes, cannibals and neuropathology.
Pawel P Liberski, Beata Sikorska, Shirley Lindenbaum, Lev G Goldfarb, Catriona McLean

J Neuropathol Exp Neurol· February 2012

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Montse Olivé, Zagaa Odgerel, Amaia Martínez, Juan José Poza, Federico García Bragado, Lev G Goldfarb

Neuromuscul Disord· August 2011

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Nemaline myopathy type 6: clinical and myopathological features.
Montse Olivé, Lev G Goldfarb, Hee-Suk Lee, Zagaa Odgerel, Andre Blokhin

Muscle Nerve· December 2010

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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, Rachael M Duff, Munkhuu Bayarsaikhan, Lev G Goldfarb

Am J Hum Genet· December 2010

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Dominant-negative effects of a novel mutation in the filamin myopathy.
Peter F M van der Ven, Zagaa Odgerel, Dieter O Fürst, Lev G Goldfarb, Satoshi Kono

Neurology· December 2010

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DNA sequencing errors in molecular diagnostics of filamin myopathy.
Zagaa Odgerel, Peter F M van der Ven, Dieter O Fürst, Lev G Goldfarb

Clin Chem Lab Med· October 2010

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Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Zagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Lev G Goldfarb

Neuromuscul Disord· July 2010

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Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia.
Hee Suk Lee, Svetlana N Zhdanova, Vsevolod A Vladimirtsev, Fyodor A Platonov, Vladimir L Osakovskiy, Lev G Goldfarb

Epidemiology· January 2010

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Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
Alisdair McNeill, Daniel Birchall, Volker Straub, Lev Goldfarb, Peter Reilich

Eur Neurol· October 2009

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Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases.
Lev G Goldfarb, Vsevolod A Vladimirtsev, Fyodor A Platanov, Hee-Suk Lee, Catriona A McLean

Folia Neuropathol· August 2009

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Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Lev G Goldfarb, Marinos C Dalakas

J Clin Invest· July 2009

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Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Gerard Piñol-Ripoll, Alexey Shatunov, Ana Cabello, Pilar Larrodé, Iris de la Puerta, Lev G Goldfarb

Neuromuscul Disord· June 2009

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