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Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. [electronic resource] by
- Seixas, Ana I
- Holmes, Susan E
- Takeshima, Hiroshi
- Pavlovich, Amira
- Sachs, Nancy
- Pruitt, Jennifer L
- Silveira, Isabel
- Ross, Christopher A
- Margolis, Russell L
- Rudnicki, Dobrila D
Producer: 20120426
In:
Annals of neurology vol. 71
Availability: No items available.
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Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12. [electronic resource] by
- O'Hearn, Elizabeth E
- Hwang, Hyon S
- Holmes, Susan E
- Rudnicki, Dobrila D
- Chung, Daniel W
- Seixas, Ana I
- Cohen, Rachael L
- Ross, Christopher A
- Trojanowski, John Q
- Pletnikova, Olga
- Troncoso, Juan C
- Margolis, Russell L
Producer: 20161012
In:
Movement disorders : official journal of the Movement Disorder Society vol. 30
Availability: No items available.
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8.
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Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. [electronic resource] by
- Cagnoli, Claudia
- Stevanin, Giovanni
- Brussino, Alessandro
- Barberis, Marco
- Mancini, Cecilia
- Margolis, Russell L
- Holmes, Susan E
- Nobili, Marcello
- Forlani, Sylvie
- Padovan, Sergio
- Pappi, Patrizia
- Zaros, Cécile
- Leber, Isabelle
- Ribai, Pascale
- Pugliese, Luisa
- Assalto, Corrado
- Brice, Alexis
- Migone, Nicola
- Dürr, Alexandra
- Brusco, Alfredo
Producer: 20110128
In:
Human mutation vol. 31
Availability: No items available.
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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. [electronic resource] by
- Bauer, Ingrid
- Gencik, Martin
- Laccone, Franco
- Peters, Hartmut
- Weber, Bernhard H F
- Feder, Elke Holinski
- Weirich, Helga
- Morris-Rosendahl, Deborah J
- Rolfs, Arndt
- Gencikova, Alexandra
- Bauer, Peter
- Wenning, Gregor K
- Epplen, Jörg T
- Holmes, Susan E
- Margolis, Russell L
- Ross, Christopher A
- Riess, Olaf
Producer: 20020731
In:
Annals of neurology vol. 51
Availability: No items available.
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10.
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Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. [electronic resource] by
- Bruce, Heather A
- Sachs, Nancy
- Rudnicki, Dobrila D
- Lin, Stephanie G
- Willour, Virginia L
- Cowell, John K
- Conroy, Jeffrey
- McQuaid, Devin E
- Rossi, Michael
- Gaile, Daniel P
- Nowak, Norma J
- Holmes, Susan E
- Sklar, Pamela
- Ross, Christopher A
- Delisi, Lynn E
- Margolis, Russell L
Producer: 20091106
In:
Psychiatric genetics vol. 19
Availability: No items available.
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11.
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Huntington's Disease-like 2 (HDL2) in North America and Japan. [electronic resource] by
- Margolis, Russell L
- Holmes, Susan E
- Rosenblatt, Adam
- Gourley, Lisa
- O'Hearn, Elizabeth
- Ross, Christopher A
- Seltzer, William K
- Walker, Ruth H
- Ashizawa, Tetsuo
- Rasmussen, Astrid
- Hayden, Michael
- Almqvist, Elisabeth W
- Harris, Juliette
- Fahn, Stanley
- MacDonald, Marcy E
- Mysore, Jayalakshmi
- Shimohata, Takayoshi
- Tsuji, Shoji
- Potter, Nicholas
- Nakaso, Kazuhiro
- Adachi, Yoshiki
- Nakashima, Kenji
- Bird, Thomas
- Krause, Amanda
- Greenstein, Penny
Producer: 20050110
In:
Annals of neurology vol. 56
Availability: No items available.
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