Brompton mixture taken intravenously by a heroin addict.

Por Fischbeck, K H, Mata, M, D'Aquisto, R, Caronna, J J
Publicado em 1980

Androgen receptor mutation in Kennedy's disease.

Por Fischbeck, K H, Lieberman, A, Bailey, C K, Abel, A, Merry, D E
Publicado em 1999

Paternal transmission of congenital myotonic dystrophy.

Por Bergoffen, J, Kant, J, Sladky, J, McDonald-McGinn, D, Zackai, E H, Fischbeck, K H
Publicado em 1994

Linkage localization of X-linked Charcot-Marie-Tooth disease.

Por Bergoffen, J, Trofatter, J, Pericak-Vance, M A, Haines, J L, Chance, P F, Fischbeck, K H
Publicado em 1993

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Por Cochrane, S, Bergoffen, J, Fairweather, N D, Müller, E, Mostacciuolo, M L, Monaco, A P, Fischbeck, K H, Haites, N E
Publicado em 1994

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Por Lynch, D R, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Driscoll, D A, Whitaker, L A, Fischbeck, K H
Publicado em 1995

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

Por Traoré, M., Landouré, G., Motley, W., Sangaré, M., Meilleur, K., Coulibaly, S., Traoré, S., Niaré, B., Mochel, F., La Pean, A., Vortmeyer, A., Mani, H., Fischbeck, K. H.
Publicado em 2009

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

Por Meilleur, K.G., Traoré, M., Sangaré, M., Britton, A., Landouré, G., Coulibaly, S., Niaré, B., Mochel, F., La Pean, A., Rafferty, I., Watts, C., Littleton-Kearney, M. T., Blackstone, C., Singleton, A., Fischbeck, K.H.
Publicado em 2009

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Por Zimoń, M., Baets, J., Fabrizi, G.M., Jaakkola, E., Kabzińska, D., Pilch, J., Schindler, A.B., Cornblath, D.R., Fischbeck, K.H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman, V., Suter, U., Hausmanowa-Petrusewicz, I., Niemann, A., Kochański, A., De Jonghe, P., Jordanova, A.
Publicado em 2011