Hoffman EP - Search Results

1

A rippling muscle disease gene is localized to 1q41: evidence for multiple genes.

Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP. Stephan DA, et al. Among authors: hoffman ep. Neurology. 1994 Oct;44(10):1915-20. doi: 10.1212/wnl.44.10.1915. Neurology. 1994. PMID: 7936247

2

Physical mapping of the rippling muscle disease locus.

Stephan DA, Hoffman EP. Stephan DA, et al. Among authors: hoffman ep. Genomics. 1999 Feb 1;55(3):268-74. doi: 10.1006/geno.1998.5689. Genomics. 1999. PMID: 10049580

3

Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction.

Zhou J, Hoffman EP. Zhou J, et al. Among authors: hoffman ep. J Biol Chem. 1994 Jul 15;269(28):18563-71. J Biol Chem. 1994. PMID: 8034605 Free article.

4

Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.

Wang JZ, Rojas CV, Zhou JH, Schwartz LS, Nicholas H, Hoffman EP. Wang JZ, et al. Among authors: hoffman ep. Biochem Biophys Res Commun. 1992 Jan 31;182(2):794-801. doi: 10.1016/0006-291x(92)91802-w. Biochem Biophys Res Commun. 1992. PMID: 1310396

5

In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

Wang J, Dubowitz V, Lehmann-Horn F, Ricker K, Ptacek L, Hoffman EP. Wang J, et al. Among authors: hoffman ep. Soc Gen Physiol Ser. 1995;50:77-88. Soc Gen Physiol Ser. 1995. PMID: 7676326 Review.

6

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.

Zhou J, Spier SJ, Beech J, Hoffman EP. Zhou J, et al. Among authors: hoffman ep. Hum Mol Genet. 1994 Sep;3(9):1599-603. doi: 10.1093/hmg/3.9.1599. Hum Mol Genet. 1994. PMID: 7833917

7

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

Martínez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Martínez Murillo F, et al. Among authors: hoffman ep. Neurology. 1999 Jul 13;53(1):50-6. doi: 10.1212/wnl.53.1.50. Neurology. 1999. PMID: 10408536

8

A new locus for hemiplegic migraine maps to chromosome 1q31.

Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. Gardner K, et al. Among authors: hoffman ep. Neurology. 1997 Nov;49(5):1231-8. doi: 10.1212/wnl.49.5.1231. Neurology. 1997. PMID: 9371899

9

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH. Scacheri PC, et al. Among authors: hoffman ep. Neurology. 2000 Dec 12;55(11):1689-96. doi: 10.1212/wnl.55.11.1689. Neurology. 2000. PMID: 11113224

10

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP. Scacheri PC, et al. Among authors: hoffman ep. Neurology. 2002 Feb 26;58(4):593-602. doi: 10.1212/wnl.58.4.593. Neurology. 2002. PMID: 11865138

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