Hee‐Suk Lee

发表

Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases.

C. Masters, C. Mclean, L. Goldfarb, 2009, Folia neuropathologica.

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

J. Nagle, M. Dalakas, S. Gorokhova, 1998, Nature Genetics.

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

J. Armstrong, I. Ferrer, C. Paradas, 2011, Neuromuscular Disorders.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

I. Ferrer, M. Tegenthoff, J. Bilbao, 2012, Brain : a journal of neurology.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

E. Bertini, K. Bushby, A. D’Amico, 2010, Neuromuscular Disorders.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

I. Ferrer, K. Bushby, M. Dalakas, 2009, European Journal of Human Genetics.

Nemaline myopathy type 6: Clinical and myopathological features

N. Laing, N. Sambuughin, L. Goldfarb, 2010, Muscle & nerve.

Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

B. Brandom, N. Sambuughin, L. Groom, 2011, Anesthesiology.

Diversity of cardiomyopathy phenotypes caused by mutations in desmin

A. Kaminska, L. Goldfarb, P. Pruszczyk, 2008 .

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

Mark Hallett, John Hardy, Andrew B Singleton, 2006, Brain : a journal of neurology.

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

M. Dalakas, N. Sambuughin, K. Sivakumar, 1998, Journal of the Neurological Sciences.

Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population

N. Sambuughin, L. Goldfarb, Z. Odgerel, 2012, Journal of diabetes.

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy

H. Budka, P. Brown, R. Petersen, 2002, Annals of neurology.

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

V. Ferrans, M. Dalakas, Kye-yoon Park, 2000, Clinical genetics.

Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain

C. Mcgorrian, C. Sewry, L. Goldfarb, 2012, European Neurology.

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

A. Singleton, K. Fischbeck, M. Fay, 2014, Annals of neurology.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

M. Dalakas, Kye-yoon Park, K. Sivakumar, 2000, The New England journal of medicine.

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

P Brown, J. Long, H. Budka, 1999, American journal of human genetics.