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81.
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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. [electronic resource] by
- Figueroa, Karla P
- Minassian, Natali A
- Stevanin, Giovanni
- Waters, Michael
- Garibyan, Vartan
- Forlani, Sylvie
- Strzelczyk, Adam
- Bürk, Katrin
- Brice, Alexis
- Dürr, Alexandra
- Papazian, Diane M
- Pulst, Stefan M
Producer: 20100422
In:
Human mutation vol. 31
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82.
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Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65. [electronic resource] by
- Sun, Xin
- Li, Pan P
- Zhu, Shanshan
- Cohen, Rachael
- Marque, Leonard O
- Ross, Christopher A
- Pulst, Stefan M
- Chan, Ho Yin Edwin
- Margolis, Russell L
- Rudnicki, Dobrila D
Producer: 20160803
In:
Scientific reports vol. 5
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83.
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Relationship of creatine kinase to body composition, disease state, and longevity in ALS. [electronic resource] by
- Gibson, Summer B
- Kasarskis, Edward J
- Hu, Nan
- Pulst, Stefan-M
- Mendiondo, Marta S
- Matthews, Dwight E
- Mitsumoto, Hiroshi
- Tandan, Rup
- Simmons, Zachary
- Kryscio, Richard J
- Bromberg, Mark B
Producer: 20160831
In:
Amyotrophic lateral sclerosis & frontotemporal degeneration vol. 16
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84.
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Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. [electronic resource] by
- Figueroa, Karla P
- Paul, Sharan
- Calì, Tito
- Lopreiato, Raffaele
- Karan, Sukanya
- Frizzarin, Martina
- Ames, Darren
- Zanni, Ginevra
- Brini, Marisa
- Dansithong, Warunee
- Milash, Brett
- Scoles, Daniel R
- Carafoli, Ernesto
- Pulst, Stefan M
Producer: 20171212
In:
Disease models & mechanisms vol. 9
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85.
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Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids. [electronic resource] by
- Sikorska, Marianna
- Sandhu, Jagdeep K
- Simon, David K
- Pathiraja, Vimukthi
- Sodja, Caroline
- Li, Yan
- Ribecco-Lutkiewicz, Maria
- Lanthier, Patricia
- Borowy-Borowski, Henryk
- Upton, Adrian
- Raha, Sandeep
- Pulst, Stefan M
- Tarnopolsky, Mark A
Producer: 20091006
In:
Muscle & nerve vol. 40
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86.
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ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. [electronic resource] by
- Li, Pan P
- Sun, Xin
- Xia, Guangbin
- Arbez, Nicolas
- Paul, Sharan
- Zhu, Shanshan
- Peng, H Benjamin
- Ross, Christopher A
- Koeppen, Arnulf H
- Margolis, Russell L
- Pulst, Stefan M
- Ashizawa, Tetsuo
- Rudnicki, Dobrila D
Producer: 20170605
In:
Annals of neurology vol. 80
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87.
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. [electronic resource] by
- Matsuura, Tohru
- Fang, Ping
- Lin, Xi
- Khajavi, Mehrdad
- Tsuji, Kuniko
- Rasmussen, Astrid
- Grewal, Raji P
- Achari, Madhureeta
- Alonso, Maria E
- Pulst, Stefan M
- Zoghbi, Huda Y
- Nelson, David L
- Roa, Benjamin B
- Ashizawa, Tetsuo
Producer: 20040706
In:
American journal of human genetics vol. 74
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88.
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Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. [electronic resource] by
- Becker, Lindsay A
- Huang, Brenda
- Bieri, Gregor
- Ma, Rosanna
- Knowles, David A
- Jafar-Nejad, Paymaan
- Messing, James
- Kim, Hong Joo
- Soriano, Armand
- Auburger, Georg
- Pulst, Stefan M
- Taylor, J Paul
- Rigo, Frank
- Gitler, Aaron D
Producer: 20170822
In:
Nature vol. 544
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89.
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A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. [electronic resource] by
- Hekman, Katherine E
- Yu, Guo-Yun
- Brown, Christopher D
- Zhu, Haipeng
- Du, Xiaofei
- Gervin, Kristina
- Undlien, Dag Erik
- Peterson, April
- Stevanin, Giovanni
- Clark, H Brent
- Pulst, Stefan M
- Bird, Thomas D
- White, Kevin P
- Gomez, Christopher M
Producer: 20130515
In:
Human molecular genetics vol. 21
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90.
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KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. [electronic resource] by
- Gallego-Iradi, Carolina
- Bickford, Justin S
- Khare, Swati
- Hall, Alexis
- Nick, Jerelyn A
- Salmasinia, Donya
- Wawrowsky, Kolja
- Bannykh, Serguei
- Huynh, Duong P
- Rincon-Limas, Diego E
- Pulst, Stefan M
- Nick, Harry S
- Fernandez-Funez, Pedro
- Waters, Michael F
Producer: 20150602
In:
Neurobiology of disease vol. 71
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91.
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MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. [electronic resource] by
- Brown, Alexander S
- Meera, Pratap
- Altindag, Banu
- Chopra, Ravi
- Perkins, Emma M
- Paul, Sharan
- Scoles, Daniel R
- Tarapore, Eric
- Magri, Jessica
- Huang, Haoran
- Jackson, Mandy
- Shakkottai, Vikram G
- Otis, Thomas S
- Pulst, Stefan M
- Atwood, Scott X
- Oro, Anthony E
Producer: 20190322
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 115
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92.
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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. [electronic resource] by
- Waters, Michael F
- Minassian, Natali A
- Stevanin, Giovanni
- Figueroa, Karla P
- Bannister, John P A
- Nolte, Dagmar
- Mock, Allan F
- Evidente, Virgilio Gerald H
- Fee, Dominic B
- Müller, Ulrich
- Dürr, Alexandra
- Brice, Alexis
- Papazian, Diane M
- Pulst, Stefan M
Producer: 20060614
In:
Nature genetics vol. 38
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93.
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C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. [electronic resource] by
- Figueroa, Karla P
- Gan, Shi-Rui
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher M
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah H
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Pulst, Stefan M
- Kuo, Sheng-Han
Producer: 20190611
In:
Movement disorders : official journal of the Movement Disorder Society vol. 33
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94.
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Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. [electronic resource] by
- Moscovich, M
- Okun, Michael S
- Favilla, Chris
- Figueroa, Karla P
- Pulst, Stefan M
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram
- Ying, Sarah
- Zesiewicz, Theresa
- Kuo, S H
- Mazzoni, P
- Bushara, Khalaf
- Xia, Guangbin
- Ashizawa, Tetsuo
- Subramony, S H
Producer: 20151029
In:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 35
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95.
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Coenzyme Q10 and spinocerebellar ataxias. [electronic resource] by
- Lo, Raymond Y
- Figueroa, Karla P
- Pulst, Stefan M
- Lin, Chi-Ying
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Kuo, Sheng-Han
Producer: 20151022
In:
Movement disorders : official journal of the Movement Disorder Society vol. 30
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96.
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Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. [electronic resource] by
- Lai, Ruo-Yah
- Tomishon, Darya
- Figueroa, Karla P
- Pulst, Stefan M
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher M
- Schmahmann, Jeremy D
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah H
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Kuo, Sheng-Han
Producer: 20191206
In:
Cerebellum (London, England) vol. 18
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97.
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Vascular risk factors and clinical progression in spinocerebellar ataxias. [electronic resource] by
- Lo, Raymond Y
- Figueroa, Karla P
- Pulst, Stefan M
- Lin, Chi-Ying
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher M
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah H
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Kuo, Sheng-Han
Producer: 20150225
In:
Tremor and other hyperkinetic movements (New York, N.Y.) vol. 5
Availability: No items available.
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98.
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Depression and clinical progression in spinocerebellar ataxias. [electronic resource] by
- Lo, Raymond Y
- Figueroa, Karla P
- Pulst, Stefan M
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Yu, Jui-Tsen
- Lee, Lue-En
- Ashizawa, Tetsuo
- Subramony, S H
- Kuo, Sheng-Han
Producer: 20160926
In:
Parkinsonism & related disorders vol. 22
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99.
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Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. [electronic resource] by
- Gan, Shi-Rui
- Wang, Jie
- Figueroa, Karla P
- Pulst, Stefan M
- Tomishon, Darya
- Lee, Danielle
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher M
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah H
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael D
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Kuo, Sheng-Han
Producer: 20180301
In:
Tremor and other hyperkinetic movements (New York, N.Y.) vol. 7
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100.
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The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. [electronic resource] by
- Luo, Lan
- Wang, Jie
- Lo, Raymond Y
- Figueroa, Karla P
- Pulst, Stefan M
- Kuo, Pei-Hsin
- Perlman, Susan
- Wilmot, George
- Gomez, Christopher M
- Schmahmann, Jeremy
- Paulson, Henry
- Shakkottai, Vikram G
- Ying, Sarah H
- Zesiewicz, Theresa
- Bushara, Khalaf
- Geschwind, Michael
- Xia, Guangbin
- Subramony, S H
- Ashizawa, Tetsuo
- Kuo, Sheng-Han
Producer: 20180320
In:
Cerebellum (London, England) vol. 16
Availability: No items available.
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