共 5 条
[1]
The Autosomal Recessive Cerebellar Ataxias
[J].
Anheim, Mathieu
;
Tranchant, Christine
;
Koenig, Michel
.
NEW ENGLAND JOURNAL OF MEDICINE,
2012, 366 (07)
:636-646

Anheim, Mathieu
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Dept Genet & Cytogenet, Paris, France
Ctr Reference Malad Neurogenet Enfant & Adulte, Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, INSERM,Unite Mixte Rech Sci S975, Paris, France
Ctr Natl Rech Sci, Unite Mixte Rech Sci 7225, Paris, France Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Dept Genet & Cytogenet, Paris, France

Tranchant, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Strasbourg, Dept Neurol, Strasbourg, France Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Dept Genet & Cytogenet, Paris, France

Koenig, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Strasbourg, Lab Diagnost Genet, Nouvel Hop Civil, Strasbourg, France
Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Ctr Natl Rech Sci, INSERM, Illkirch Graffenstaden, France Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Dept Genet & Cytogenet, Paris, France
[2]
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
[J].
Chamova, Teodora
;
Florez, Laura
;
Guergueltcheva, Velina
;
Raycheva, Margarita
;
Kaneva, Radka
;
Lochmueller, Hanns
;
Kalaydjieva, Luba
;
Tournev, Ivailo
.
JOURNAL OF NEUROLOGY,
2012, 259 (05)
:906-911

Chamova, Teodora
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Alexandrovska, Neurol Clin, Sofia, Bulgaria QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

Florez, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Mol Genet Lab, Western Australian Inst Med Res, Perth, WA 6009, Australia
Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

Guergueltcheva, Velina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Alexandrovska, Neurol Clin, Sofia, Bulgaria QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

Raycheva, Margarita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Alexandrovska, Neurol Clin, Sofia, Bulgaria QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

论文数: 引用数:
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Lochmueller, Hanns
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

Kalaydjieva, Luba
论文数: 0 引用数: 0
h-index: 0
机构:
QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia
Univ Western Australia, Mol Genet Lab, Western Australian Inst Med Res, Perth, WA 6009, Australia
Univ Western Australia, Med Res Ctr, Perth, WA 6009, Australia QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

Tournev, Ivailo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Alexandrovska, Neurol Clin, Sofia, Bulgaria
New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria QE II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia
[3]
CEREBELLAR ATAXIA WITH SYNE1 MUTATION ACCOMPANYING MOTOR NEURON DISEASE
[J].
Izumi, Yuishin
;
Miyamoto, Ryosuke
;
Morino, Hiroyuki
;
Yoshizawa, Akio
;
Nishinaka, Kazuto
;
Udaka, Fukashi
;
Kameyama, Masakuni
;
Maruyama, Hirofumi
;
Kawakami, Hideshi
.
NEUROLOGY,
2013, 80 (06)
:600-601

Izumi, Yuishin
论文数: 0 引用数: 0
h-index: 0
机构:
Sumitomo Hosp, Dept Neurol, Osaka, Japan
Tokushima Univ Hosp, Dept Neurol, Tokushima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Miyamoto, Ryosuke
论文数: 0 引用数: 0
h-index: 0
机构:
Tokushima Univ Hosp, Dept Neurol, Tokushima, Japan
Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Morino, Hiroyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Yoshizawa, Akio
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Nishinaka, Kazuto
论文数: 0 引用数: 0
h-index: 0
机构:
Sumitomo Hosp, Dept Neurol, Osaka, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Udaka, Fukashi
论文数: 0 引用数: 0
h-index: 0
机构:
Sumitomo Hosp, Dept Neurol, Osaka, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Kameyama, Masakuni
论文数: 0 引用数: 0
h-index: 0
机构:
Sumitomo Hosp, Dept Neurol, Osaka, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Maruyama, Hirofumi
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan

Kawakami, Hideshi
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima, Japan Sumitomo Hosp, Dept Neurol, Osaka, Japan
[4]
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
[J].
Maruyama, H
;
Izumi, Y
;
Morino, H
;
Oda, M
;
Toji, H
;
Nakamura, S
;
Kawakami, H
.
AMERICAN JOURNAL OF MEDICAL GENETICS,
2002, 114 (05)
:578-583

Maruyama, H
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Izumi, Y
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Morino, H
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Oda, M
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Toji, H
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Nakamura, S
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

Kawakami, H
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan
[5]
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia
[J].
Vermeer, Sascha
;
Hoischen, Alexander
;
Meijer, Rowdy P. P.
;
Gilissen, Christian
;
Neveling, Kornelia
;
Wieskamp, Nienke
;
de Brouwer, Arjan
;
Koenig, Michel
;
Anheim, Mathieu
;
Assoum, Mirna
;
Drouot, Nathalie
;
Todorovic, Slobodanka
;
Milic-Rasic, Vedrana
;
Lochmueller, Hanns
;
Stevanin, Giovanni
;
Goizet, Cyril
;
David, Albert
;
Durr, Alexandra
;
Brice, Alexis
;
Kremer, Berry
;
van de Warrenburg, Bart P. C.
;
Schijvenaars, Mascha M. V. A. P.
;
Heister, Angelien
;
Kwint, Michael
;
Arts, Peer
;
van der Wijst, Jenny
;
Veltman, Joris
;
Kamsteeg, Erik-Jan
;
Scheffer, Hans
;
Knoers, Nine
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2010, 87 (06)
:813-819

Vermeer, Sascha
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Hoischen, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Meijer, Rowdy P. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Gilissen, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Neveling, Kornelia
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Wieskamp, Nienke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

de Brouwer, Arjan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Koenig, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, CNRS UMR7104, INSERM U964, IGBMC, F-67404 Illkirch Graffenstaden, France
Nouvel Hop Civil, Lab Diagnost Genet, F-67091 Strasbourg, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Anheim, Mathieu
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France
INSERM, U975, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

论文数: 引用数:
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Drouot, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, CNRS UMR7104, INSERM U964, IGBMC, F-67404 Illkirch Graffenstaden, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Todorovic, Slobodanka
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Belgrade, Fac Med, Clin Pediat & Adolescent Neurol & Psychiat, Belgrade 11000, Serbia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Milic-Rasic, Vedrana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Belgrade, Fac Med, Clin Pediat & Adolescent Neurol & Psychiat, Belgrade 11000, Serbia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Lochmueller, Hanns
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France
INSERM, U975, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Goizet, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux 2, Lab Genet Humaine, F-33076 Bordeaux, France
CHU Pellegrin, Serv Genet Med, F-33076 Bordeaux, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

David, Albert
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, F-44093 Nantes, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Durr, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France
INSERM, U975, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Brice, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France
Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France
INSERM, U975, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Kremer, Berry
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9713 GZ Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van de Warrenburg, Bart P. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Schijvenaars, Mascha M. V. A. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Heister, Angelien
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Kwint, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Arts, Peer
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van der Wijst, Jenny
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Physiol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Veltman, Joris
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Kamsteeg, Erik-Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Scheffer, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Knoers, Nine
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands