Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

[1]  P. S. St George-Hyslop,et al.  Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity , 2001, Movement disorders : official journal of the Movement Disorder Society.

[2]  M. Dichgans,et al.  Inherited myoclonus‐dystonia syndrome: Narrowing the 7q21‐q31 locus in German families , 2001, Annals of neurology.

[3]  S. Noguchi,et al.  A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system. , 2000, Human molecular genetics.

[4]  M. Brin,et al.  A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. , 2000, American journal of human genetics.

[5]  K. Scheidtmann,et al.  Familiäres Myoklonus-Dystonie-Syndrom assoziiert mit Panikattacken , 2000, Der Nervenarzt.

[6]  Y. Agid,et al.  D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus , 2000, Annals of neurology.

[7]  X. Breakefield,et al.  Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. , 2000, Human molecular genetics.

[8]  N. Copeland,et al.  Zac1 (Lot1), a Potential Tumor Suppressor Gene, and the Gene for ɛ-Sarcoglycan Are Maternally Imprinted Genes: Identification by a Subtractive Screen of Novel Uniparental Fibroblast Lines , 2000, Molecular and Cellular Biology.

[9]  E. Koenig,et al.  [Familial myoclonus-dystonia syndrome associated with panic attacks]. , 2000, Der Nervenarzt.

[10]  D. Jennings,et al.  Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31 , 1999, Annals of neurology.

[11]  J. Sanes,et al.  ε-Sarcoglycan Replaces α-Sarcoglycan in Smooth Muscle to Form a Unique Dystrophin-Glycoprotein Complex* , 1999, The Journal of Biological Chemistry.

[12]  S Fahn,et al.  Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[13]  P. Goldman-Rakic,et al.  The reduced neuropil hypothesis: a circuit based model of schizophrenia , 1999, Biological Psychiatry.

[14]  K. Campbell,et al.  The sarcoglycan complex in limb-girdle muscular dystrophy. , 1998, Current opinion in neurology.

[15]  L. Kunkel,et al.  Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene 1 , 1998, FEBS letters.

[16]  T. Gasser Inherited myoclonus-dystonia syndrome. , 1998, Advances in neurology.

[17]  J. Sanes,et al.  ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2D* , 1997, The Journal of Biological Chemistry.

[18]  N. Risch,et al.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.

[19]  G. Deuschl,et al.  Linkage studies in alcohol‐responsive myoclonic dystonia , 1996, Movement disorders : official journal of the Movement Disorder Society.

[20]  S. Tsuji,et al.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene , 1994, Nature Genetics.

[21]  S. Fahn,et al.  Hereditary essential myoclonus in a large norwegian family , 1991, Movement disorders : official journal of the Movement Disorder Society.

[22]  L. Forsgren,et al.  Alcohol‐responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation , 1990, Movement disorders : official journal of the Movement Disorder Society.

[23]  I. Shoulson,et al.  Myoclonus and dystonia: a family study. , 1988, Advances in neurology.

[24]  P. Thompson,et al.  Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. , 1988, Advances in neurology.

[25]  I. Shoulson,et al.  Hereditary myoclonus and chorea: The spectrum of hereditary nonprogressive hyperkinetic movement disorders , 1987, Movement disorders : official journal of the Movement Disorder Society.

[26]  J. Daube,et al.  Hereditary essential myoclonus. , 1966, Archives of neurology.

[27]  E. Donaldson,et al.  A Family Study. , 1962 .