共 6 条
[1]
Bakalkin G, 2010, AM J HUM GENET, V87, P593, DOI 10.1016/j.ajhg.2010.10.001
[2]
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
[J].
Bauer, Peter
;
Stevanin, Giovanni
;
Beetz, Christian
;
Synofzik, Matthis
;
Schmitz-Huebsch, Tanja
;
Wuellner, Ullrich
;
Berthier, Eric
;
Ollagnon-Roman, Elisabeth
;
Riess, Olaf
;
Forlani, Sylvie
;
Mundwiller, Emeline
;
Durr, Alexandra
;
Schoels, Ludger
;
Brice, Alexis
.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
2010, 81 (11)
:1229-1232

Bauer, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U975, Paris, France
Univ Paris 06, UMR S975, CNRS 7225, Ctr Rech Inst Cerveau & Moelle,Grp Hosp Pitie Sal, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Beetz, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Jena, Inst Clin Chem & Lab Diagnost, Jena, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Synofzik, Matthis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, German Ctr Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Schmitz-Huebsch, Tanja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Neurol, D-5300 Bonn, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Wuellner, Ullrich
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Neurol, D-5300 Bonn, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Berthier, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Neurol, Dept Neurol, Lyon, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Ollagnon-Roman, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Croix Rousse, Dept Neurogenet, F-69317 Lyon, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Riess, Olaf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Forlani, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U975, Paris, France
Univ Paris 06, UMR S975, CNRS 7225, Ctr Rech Inst Cerveau & Moelle,Grp Hosp Pitie Sal, Paris, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Mundwiller, Emeline
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U975, Paris, France
Univ Paris 06, UMR S975, CNRS 7225, Ctr Rech Inst Cerveau & Moelle,Grp Hosp Pitie Sal, Paris, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Durr, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U975, Paris, France
Univ Paris 06, UMR S975, CNRS 7225, Ctr Rech Inst Cerveau & Moelle,Grp Hosp Pitie Sal, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Schoels, Ludger
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany
Univ Tubingen, German Ctr Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

Brice, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U975, Paris, France
Univ Paris 06, UMR S975, CNRS 7225, Ctr Rech Inst Cerveau & Moelle,Grp Hosp Pitie Sal, Paris, France
Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Univ Tubingen, Ctr Neurol, Dept Neurol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany
[3]
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
[J].
Di Bella, Daniela
;
Lazzaro, Federico
;
Brusco, Alfredo
;
Plumari, Massimo
;
Battaglia, Giorgio
;
Pastore, Annalisa
;
Finardi, Adele
;
Cagnoli, Claudia
;
Tempia, Filippo
;
Frontali, Marina
;
Veneziano, Liana
;
Sacco, Tiziana
;
Boda, Enrica
;
Brussino, Alessandro
;
Bonn, Florian
;
Castellotti, Barbara
;
Baratta, Silvia
;
Mariotti, Caterina
;
Gellera, Cinzia
;
Fracasso, Valentina
;
Magri, Stefania
;
Langer, Thomas
;
Plevani, Paolo
;
Di Donato, Stefano
;
Muzi-Falconi, Marco
;
Taroni, Franco
.
NATURE GENETICS,
2010, 42 (04)
:313-U66

Di Bella, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

论文数: 引用数:
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Brusco, Alfredo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
San Giovanni Battista Hosp, Unit Med Genet, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Plumari, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Battaglia, Giorgio
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Mol Neuroanat, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Pastore, Annalisa
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Med Res, London NW7 1AA, England Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Finardi, Adele
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Mol Neuroanat, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Cagnoli, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
San Giovanni Battista Hosp, Unit Med Genet, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Tempia, Filippo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Physiol Sect, Dept Neurosci, Turin, Italy
Natl Inst Neurosci, Rita Levi Montalcini Ctr Brain Repair, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Frontali, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Inst Neurobiol & Mol Med, Rome, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Veneziano, Liana
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Inst Neurobiol & Mol Med, Rome, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Sacco, Tiziana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Physiol Sect, Dept Neurosci, Turin, Italy
Natl Inst Neurosci, Rita Levi Montalcini Ctr Brain Repair, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Boda, Enrica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Physiol Sect, Dept Neurosci, Turin, Italy
Natl Inst Neurosci, Rita Levi Montalcini Ctr Brain Repair, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Brussino, Alessandro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
San Giovanni Battista Hosp, Unit Med Genet, Turin, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Bonn, Florian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Genet, D-5000 Cologne 41, Germany
Univ Cologne, Ctr Mol Med Cologne, D-5000 Cologne 41, Germany Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Castellotti, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Baratta, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Mariotti, Caterina
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Gellera, Cinzia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Fracasso, Valentina
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Magri, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

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Plevani, Paolo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Biomol Sci & Biotechnol, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Di Donato, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Muzi-Falconi, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Biomol Sci & Biotechnol, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

Taroni, Franco
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Fdn IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy
[4]
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
[J].
Edener, Ulf
;
Woellner, Janine
;
Hehr, Ute
;
Kohl, Zacharias
;
Schilling, Stefan
;
Kreuz, Friedmar
;
Bauer, Peter
;
Bernard, Veronica
;
Gillessen-Kaesbach, Gabriele
;
Zuehlke, Christine
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2010, 18 (08)
:965-968

Edener, Ulf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

论文数: 引用数:
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机构:

Hehr, Ute
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Regensberg, Zentrum Humangenet, Regensburg, Germany
Univ Klinikum Regensberg, Inst Humangenet, Regensburg, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Kohl, Zacharias
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Erlangen, Abt Mol Neurol, Erlangen, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Schilling, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Regensburg, Neurol Klin & Poliklin, Regensburg, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Kreuz, Friedmar
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany

Bauer, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Humangenet, Tubingen, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Bernard, Veronica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Gillessen-Kaesbach, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany

Zuehlke, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Lubeck, Inst Humangenet, Lubeck, Germany
[5]
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
[J].
Houlden, Henry
;
Johnson, Janel
;
Gardner-Thorpe, Christopher
;
Lashley, Tammaryn
;
Hernandez, Dena
;
Worth, Paul
;
Singleton, Andrew B.
;
Hilton, David A.
;
Holton, Janice
;
Revesz, Tamas
;
Davis, Mary B.
;
Giunti, Paolo
;
Wood, Nicholas W.
.
NATURE GENETICS,
2007, 39 (12)
:1434-1436

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Johnson, Janel
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Gardner-Thorpe, Christopher
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Lashley, Tammaryn
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Hernandez, Dena
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Worth, Paul
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Singleton, Andrew B.
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Hilton, David A.
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Holton, Janice
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Revesz, Tamas
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Davis, Mary B.
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Giunti, Paolo
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Wood, Nicholas W.
论文数: 0 引用数: 0
h-index: 0
机构: UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[6]
Autosomal dominant cerebellar ataxias:: clinical features, genetics, and pathogenesis
[J].
Schöls, L
;
Bauer, P
;
Schmidt, T
;
Schulte, T
;
Riess, O
.
LANCET NEUROLOGY,
2004, 3 (05)
:291-304

Schöls, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany

Bauer, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany

Schmidt, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany

Schulte, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany

Riess, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany