共 44 条
[1]
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
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Aboud Syriani, Dona
;
Wong, Darice
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Andani, Sameer
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De Gusmao, Claudio M.
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Mao, Yuanming
;
Sanyoura, May
;
Glotzer, Giacomo
;
Lockhart, Paul J.
;
Hassin-Baer, Sharon
;
Khurana, Vikram
;
Gomez, Christopher M.
;
Perlman, Susan
;
Das, Soma
;
Fogel, Brent L.
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NEUROLOGY-GENETICS,
2020, 6 (03)

Aboud Syriani, Dona
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Wong, Darice
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Clin Neurogen Res Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Andani, Sameer
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

De Gusmao, Claudio M.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Neurol, 75 Francis St, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Mao, Yuanming
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Sanyoura, May
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Glotzer, Giacomo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Neurol, Chicago, IL 60637 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Lockhart, Paul J.
论文数: 0 引用数: 0
h-index: 0
机构:
Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Parkville, Vic, Australia
Univ Melbourne, Dept Paediat, Parkville, Vic, Australia Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Hassin-Baer, Sharon
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Khurana, Vikram
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Neurol, 75 Francis St, Boston, MA 02115 USA
Harvard Med Sch, Boston, MA 02115 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Gomez, Christopher M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Neurol, Chicago, IL 60637 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Perlman, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Fogel, Brent L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Clin Neurogen Res Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
[2]
Akcimen F., 2019, INVESTIGATION PATHOG, V593871
[3]
Beecroft SJ., 2020, BRAIN, V143, P2673, DOI [DOI 10.1093/BRAIN/AWAA203, 10.1093/brain/awaa203]
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BRONSTEIN AM, 1991, BRAIN, V114, P1
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An update on advances in magnetic resonance imaging of multiple system atrophy
[J].
Chelban, Viorica
;
Bocchetta, Martina
;
Hassanein, Sara
;
Haridy, Nourelhoda A.
;
Houlden, Henry
;
Rohrer, Jonathan D.
.
JOURNAL OF NEUROLOGY,
2019, 266 (04)
:1036-1045

Chelban, Viorica
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England
Inst Emergency Med, Dept Neurol & Neurosurg, Toma Ciorba 1, Kishinev 2052, Moldova UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England

Bocchetta, Martina
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England

Hassanein, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Assiut Univ, Dept Diagnost Radiol, Fac Med, Assiut, Egypt
UCL Inst Neurol, Dept Brain Repair & Rehabil, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England

Haridy, Nourelhoda A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England
Assiut Univ Hosp, Dept Neurol & Psychiat, Fac Med, Assiut, Egypt UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England

Rohrer, Jonathan D.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England
[6]
Friedreich's ataxia: clinical features, pathogenesis and management
[J].
Cook, A.
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Giunti, P.
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BRITISH MEDICAL BULLETIN,
2017, 124 (01)
:19-30

Cook, A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Ataxia Ctr, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Ataxia Ctr, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England

Giunti, P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Ataxia Ctr, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England UCL Inst Neurol, Ataxia Ctr, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England
[7]
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
[J].
Cortese, Andrea
;
Callegari, Ilaria
;
Curro, Riccardo
;
Vegezzi, Elisa
;
Colnaghi, Silvia
;
Versino, Maurizio
;
Alfonsi, Enrico
;
Cosentino, Giuseppe
;
Valente, Enzamaria
;
Gana, Simone
;
Tassorelli, Cristina
;
Pichiecchio, Anna
;
Rossor, Alexander M.
;
Bugiardini, Enrico
;
Biroli, Antonio
;
Di Capua, Daniela
;
Houlden, Henry
;
Reilly, Mary M.
.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
2020, 91 (11)
:1237-1238

Cortese, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Callegari, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Curro, Riccardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
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机构:

Colnaghi, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
h-index:
机构:

Alfonsi, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Cosentino, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Valente, Enzamaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Gana, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Tassorelli, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
h-index:
机构:

Rossor, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Bugiardini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Biroli, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
ASST Spedali Civili Brescia, Neurosurg Unit, Brescia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Di Capua, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Especialidades Eugenio Espejo, Neurol, Quito, Ecuador Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
[8]
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFCI repeat expansion
[J].
Cortese, Andrea
;
Tozza, Stefano
;
Yau, Wai Yan
;
Rossi, Salvatore
;
Beecroft, Sarah J.
;
Jaunmuktane, Zane
;
Dyer, Zoe
;
Ravenscroft, Gianina
;
Lamont, Phillipa J.
;
Mossman, Stuart
;
Chancellor, Andrew
;
Maisonobe, Thierry
;
Pereon, Yann
;
Cauquil, Cecile
;
Colnaghi, Silvia
;
Mallucci, Giulia
;
Curro, Riccardo
;
Tomaselli, Pedro J.
;
Thomas-Black, Gilbert
;
Sullivan, Roisin
;
Efthymiou, Stephanie
;
Rossor, Alexander M.
;
Laura, Matilde
;
Pipis, Menelaos
;
Horga, Alejandro
;
Polke, James
;
Kaski, Diego
;
Horvath, Rita
;
Chinnery, Patrick F.
;
Marques, Wilson
;
Tassorelli, Cristina
;
Devigili, Grazia
;
Leonardis, Lea
;
Wood, Nick W.
;
Bronstein, Adolfo
;
Giunti, Paola
;
Zuchner, Stephan
;
Stojkovic, Tanya
;
Laing, Nigel
;
Roxburgh, Richard H.
;
Houlden, Henry
;
Reilly, Mary M.
.
BRAIN,
2020, 143
:480-490

Cortese, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

论文数: 引用数:
h-index:
机构:

Yau, Wai Yan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Rossi, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England
Fdn Policlin Univ A Gemelli IRCSS, Dept Neurol, Rome, Italy
Univ Cattolica Sacro Cuore, Inst Neurol, Rome, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Beecroft, Sarah J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Harry Perkins Inst Med Res, QEII Med Ctr, Ctr Med Res, Nedlands, WA 6009, Australia UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Jaunmuktane, Zane
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Dyer, Zoe
论文数: 0 引用数: 0
h-index: 0
机构:
ADHB, Auckland, New Zealand
Univ Auckland, Ctr Brain Res, Neurogenet Res Clin, Auckland, New Zealand UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Ravenscroft, Gianina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Harry Perkins Inst Med Res, QEII Med Ctr, Ctr Med Res, Nedlands, WA 6009, Australia UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Lamont, Phillipa J.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Perth Hosp, Neurogenet Unit, Perth, WA, Australia UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Mossman, Stuart
论文数: 0 引用数: 0
h-index: 0
机构:
Wellington Hosp, Dept Neurol, Wellington 6021, New Zealand UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Chancellor, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Tauranga Hosp, Dept Neurol, Cameron Rd, Tauranga 3171, New Zealand UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Maisonobe, Thierry
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ prime, Hop Pitie Salpetrie, AP HP, Dept Neurophysiol, Paris, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Pereon, Yann
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Hotel Dieu, Reference Ctr Neuromuscular Dis, Nantes, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Cauquil, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Colnaghi, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Mallucci, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Curro, Riccardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Tomaselli, Pedro J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Thomas-Black, Gilbert
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Sullivan, Roisin
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Efthymiou, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Rossor, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Laura, Matilde
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Pipis, Menelaos
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Horga, Alejandro
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Polke, James
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Kaski, Diego
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Horvath, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Chinnery, Patrick F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England
Univ Cambridge, MRC Mitochondrial Biol Unit, Cambridge, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Marques, Wilson
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Tassorelli, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Devigili, Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, UO Neurol 1, Milan, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Leonardis, Lea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Ljubljana, Inst Clin Neurophysiol, Div Neurol, Ljubljana, Slovenia UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Wood, Nick W.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Bronstein, Adolfo
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Giunti, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Zuchner, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Stojkovic, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Hop Pitie Salpetriere, AP HP, INSERM,UMR S 974,Ctr Reference Malad Neuromuscula, Paris, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Laing, Nigel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Harry Perkins Inst Med Res, QEII Med Ctr, Ctr Med Res, Nedlands, WA 6009, Australia
QEII Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Neurogenet Unit, Nedlands, WA, Australia UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Roxburgh, Richard H.
论文数: 0 引用数: 0
h-index: 0
机构:
ADHB, Auckland, New Zealand
Univ Auckland, Ctr Brain Res, Neurogenet Res Clin, Auckland, New Zealand UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[9]
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
[J].
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
;
Vandrovcova, Jana
;
Tariq, Huma
;
Yan, Yau Way
;
Humphrey, Jack
;
Jaunmuktane, Zane
;
Sivakumar, Prasanth
;
Polke, James
;
Ilyas, Muhammad
;
Tribollet, Eloise
;
Tomaselli, Pedro J.
;
Devigili, Grazia
;
Callegari, Ilaria
;
Versino, Maurizio
;
Salpietrol, Vincenzo
;
Efthymiou, Stephanie
;
Kaski, Diego
;
Wood, Nick W.
;
Andrade, Nadja S.
;
Buglo, Elena
;
Rebelo, Adriana
;
Rossor, Alexander M.
;
Bronstein, Adolfo
;
Fratta, Pietro
;
Marques, Wilson J.
;
Zuchner, Stephan
;
Reilly, Mary M.
;
Houlden, Henry
.
NATURE GENETICS,
2019, 51 (04)
:649-+

Cortese, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Simone, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Sullivan, Roisin
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Vandrovcova, Jana
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Tariq, Huma
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Yan, Yau Way
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Humphrey, Jack
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Jaunmuktane, Zane
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Sivakumar, Prasanth
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Polke, James
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, London, England
UCL Queen Sq Inst Neurol, Neurogenet Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

论文数: 引用数:
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机构:

Tribollet, Eloise
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Tomaselli, Pedro J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Devigili, Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, UO Neurol 1, Milan, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Callegari, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

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机构:

Salpietrol, Vincenzo
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Efthymiou, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Kaski, Diego
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Wood, Nick W.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Andrade, Nadja S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Ctr Therapeut Innovat, Dept Psychiat & Behav Sci, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Buglo, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Rebelo, Adriana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Rossor, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Bronstein, Adolfo
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, London, England
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Fratta, Pietro
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Marques, Wilson J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Zuchner, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England
UCL Queen Sq Inst Neurol, Neurogenet Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[10]
RFC1 expansions are a common cause of idiopathic sensory neuropathy
[J].
Curro, Riccardo
;
Salvalaggio, Alessandro
;
Tozza, Stefano
;
Gemelli, Chiara
;
Dominik, Natalia
;
Deforie, Valentina Galassi
;
Magrinelli, Francesca
;
Castellani, Francesca
;
Vegezzi, Elisa
;
Businaro, Pietro
;
Callegari, Ilaria
;
Pichiecchio, Anna
;
Cosentino, Giuseppe
;
Alfonsi, Enrico
;
Marchioni, Enrico
;
Colnaghi, Silvia
;
Gana, Simone
;
Valente, Enza Maria
;
Tassorelli, Cristina
;
Efthymiou, Stephanie
;
Facchini, Stefano
;
Carr, Aisling
;
Laura, Matilde
;
Rossor, Alexander M.
;
Manji, Hadi
;
Lunn, Michael P.
;
Pegoraro, Elena
;
Santoro, Lucio
;
Grandis, Marina
;
Bellone, Emilia
;
Beauchamp, Nicholas J.
;
Hadjivassiliou, Marios
;
Kaski, Diego
;
Bronstein, Adolfo M.
;
Houlden, Henry
;
Reilly, Mary M.
;
Mandich, Paola
;
Schenone, Angelo
;
Manganelli, Fiore
;
Briani, Chiara
;
Cortese, Andrea
.
BRAIN,
2021, 144
:1542-1550

Curro, Riccardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
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论文数: 引用数:
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Gemelli, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
IRCCS San Martino Hosp, Neurol Unit, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Dominik, Natalia
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Deforie, Valentina Galassi
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Magrinelli, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

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Businaro, Pietro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Callegari, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
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Cosentino, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Alfonsi, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Marchioni, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Colnaghi, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Gana, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

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Tassorelli, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
IRCCS Mondino Fdn, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Efthymiou, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Facchini, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Carr, Aisling
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Laura, Matilde
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Rossor, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Manji, Hadi
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Lunn, Michael P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Pegoraro, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Neurosci, ERN Neuromuscular Unit, Padua, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

论文数: 引用数:
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机构:

Grandis, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
IRCCS San Martino Hosp, Neurol Unit, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Bellone, Emilia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
IRCCS San Martino Hosp, Neurol Unit, Genoa, Italy
IRCCS San Martino Hosp, Med Genet Unit, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Beauchamp, Nicholas J.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Western Bank, Sheffield, S Yorkshire, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Hadjivassiliou, Marios
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Teaching Hosp NHS Trust, Acad Dept Neurosci, Sheffield, S Yorkshire, England
Univ Sheffield, Sheffield, S Yorkshire, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Kaski, Diego
论文数: 0 引用数: 0
h-index: 0
机构:
Imperial Coll London, Dept Brain Sci, Neuro Otol Unit, London, England
UCL, Dept Clin & Motor Neurosci, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Bronstein, Adolfo M.
论文数: 0 引用数: 0
h-index: 0
机构:
Imperial Coll London, Dept Brain Sci, Neuro Otol Unit, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Mandich, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
IRCCS San Martino Hosp, Neurol Unit, Genoa, Italy
IRCCS San Martino Hosp, Med Genet Unit, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Schenone, Angelo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
IRCCS San Martino Hosp, Neurol Unit, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

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Briani, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Neurosci, ERN Neuromuscular Unit, Padua, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

Cortese, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy