Volume 8; Issue 2

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neurogenetics
Volume 8; Issue 2

neurogenetics

Volume 8; Issue 2

1

Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres

Journal:

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

2

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

Haijun Chen, Christian von Hehn, Leonard K. Kaczmarek, Laura R. Ment, Barbara R. Pober, Fuki M. Hisama

Journal:

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

3

Biological effects of thePINK1c.1366C>T mutation: implications in Parkinson disease pathogenesis

Anne Grünewald, Guido J. Breedveld, Katja Lohmann-Hedrich, Christan F. Rohé, Inke R. König, Johann Hagenah, Nicola Vanacore, Giuseppe Meco, Angelo Antonini, Stefano Goldwurm, Suzanne Lesage, Alexandra

Journal:

Year:

2007

Language:

english

File:

PDF, 346 KB

english, 2007

4

NIPA1(SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Stephan Klebe, Arnaud Lacour, Alexandra Durr, Tanya Stojkovic, Christel Depienne, Sylvie Forlani, Sandrine Poea-Guyon, Isabelle Vuillaume, Bernard Sablonniere, Patrick Vermersch, Alexis Brice, Giovann

Journal:

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

5

Leucine-rich repeat kinase 1: a paralog ofLRRK2and a candidate gene for Parkinson’s disease

Julie P. Taylor, Mary M. Hulihan, Jennifer M. Kachergus, Heather L. Melrose, Sarah J. Lincoln, Kelly M. Hinkle, Jeremy T. Stone, Owen A. Ross, Robert Hauser, Jan Aasly, Thomas Gasser, Haydeh Payami, Z

Journal:

Year:

2007

Language:

english

File:

PDF, 234 KB

english, 2007

6

Large germline deletions and duplication in isolated cerebral cavernous malformation patients

U. Felbor, S. Gaetzner, D. J. Verlaan, R. Vijzelaar, G. A. Rouleau, A. M. Siegel

Journal:

Year:

2007

Language:

english

File:

PDF, 299 KB

english, 2007

7

The medial and lateral substantia nigra in Parkinson’s disease: mRNA profiles associated with higher brain tissue vulnerability

D. C. Duke, L. B. Moran, R. K. B. Pearce, M. B. Graeber

Journal:

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

8

Nf1expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies

Jessica J. Hawes, Robert G. Tuskan, Karlyne M. Reilly

Journal:

Year:

2007

Language:

english

File:

PDF, 407 KB

english, 2007

9

Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein

Melanie Kuhn, Karina Haebig, Michael Bonin, Natalia Ninkina, Vladimir L. Buchman, Sven Poths, Olaf Riess

Journal:

Year:

2007

Language:

english

File:

PDF, 381 KB

english, 2007

10

Altered neurodevelopment associated with mutations ofRSK2: a morphometric MRI study of Coffin–Lowry syndrome

Shelli R. Kesler, Richard J. Simensen, Kytja Voeller, Fatima Abidi, Roger E. Stevenson, Charles E. Schwartz, Allan L. Reiss

Journal:

Year:

2007

Language:

english

File:

PDF, 144 KB

english, 2007

11

A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer’s disease

Dimitrios Avramopoulos, Ruihua Wang, David Valle, M. Daniele Fallin, Susan S. Bassett

Journal:

Year:

2007

Language:

english

File:

PDF, 291 KB

english, 2007

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