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Co-authors
(155)
Robert C. Williamson
11
Mark A. Pook
9
Jacqui Shaw
7
Martin Farrall
6
Kit Doudney
6
Journals
(18)
NAT GENET
4
Genomics
3
HUM GENET
3
HUM MOL GENET
3
J NEUROL NEUROSURG PSYCHIAT
3
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Authors
Susan Chamberlain
Susan Chamberlain,Imperial College London,Genetics & Genealogy,Neuroscience,Molecular Biology
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Susan Chamberlain
Imperial College London
Publications:
33
|
Citations:
574
Fields:
Genetics & Genealogy
,
Neuroscience
,
Molecular Biology
View FAQ about top research areas and Fields of study
Collaborated with
155 co-authors
from 1982 to 2002
|
Cited by
2070 authors
Cumulative
Annual
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Publications
(33)
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Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases
(
Citations: 35
)
Joanna T. Pang
,
Paola Giunti
,
Susan Chamberlain
,
Shu F. An
,
Roberta Vitaliani
,
Tomaso Scaravilli
,
Lillian Martinian
,
Nicholas W. Wood
,
Francesco Scaravilli
,
Olaf Ansorge
Journal:
Brain
, vol. 125, no. 3, pp. 656-663, 2002
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis
(
Citations: 22
)
Mark A. Pook
,
Sahar Al-Mahdawi
,
Christopher J. Carroll
,
Mireille Cossée
,
Hélène Puccio
,
Lorraine Lawrence
,
Peter Clark
,
Margaret B. Lowrie
,
Jane L. Bradley
,
Mark J. Cooper
,
Michel Kœnig
,
Susan Chamberlain
Journal:
Neurogenetics
, vol. 3, no. 4, pp. 185-193, 2001
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
(
Citations: 121
)
J. L. Bradley
,
J. C. Blake
,
S. Chamberlain
,
P. K. Thomas
,
J. M. Cooper
,
A. H. V. Schapira
Journal:
Human Molecular Genetics - HUM MOL GENET
, vol. 9, no. 2, pp. 275-282, 2000
Identification of three novel frameshift mutations in patients with Friedreich's ataxia
(
Citations: 11
)
MARK A POOK
,
SAHAR A H AL-MAHDAWI
,
NEIL H THOMAS
,
RICHARD APPLETON
,
ANDREW NORMAN
,
ROGER MOUNTFORD
,
SUSAN CHAMBERLAIN
Journal:
Journal of Medical Genetics - J MED GENET
, vol. 37, no. 11, pp. e38-e38, 2000
A novel missense mutation (L198R) in the Friedreich's ataxia gene
(
Citations: 2
)
Sahar Al-Mahdawi
,
Mark Pook
,
Susan Chamberlain
Journal:
Human Mutation - HUM MUTAT
, vol. 16, no. 1, pp. 95-95, 2000
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Citations
(574 times by 478 publications)
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Vafa Bayat
,
Isabelle Thiffault
,
Manish Jaiswal
,
Martine Tétreault
,
Taraka Donti
,
Florin Sasarman
,
Geneviève Bernard
,
Julie Demers-Lamarche
,
Marie-Josée Dicaire
,
Jean Mathieu
,
Michel Vanasse
,
Jean-Pierre Bouchard
http://academic.research.microsoft.com/io.ashx?type=5&id=57418255&selfId1=24396695&selfId2=0&maxNumber=12&query=
Journal:
PLOS Biology - PLOS BIOL
, vol. 10, no. 3, 2012
Variations of frataxin protein levels in normal individuals
(
Citations: 1
)
Therese Boehm
,
Barbara Scheiber-Mojdehkar
,
Britta Kluge
,
Hans Goldenberg
,
Franco Laccone
,
Brigitte Sturm
Journal:
Neurological Sciences - NEUROL SCI
, vol. 32, no. 2, pp. 327-330, 2011
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia
(
Citations: 3
)
Daniel Velasco-Sánchez
,
Asuncion Aracil
,
Raquel Montero
,
Ana Mas
,
Lorenzo Jiménez
,
Mar O’Callaghan
,
Maria Tondo
,
Antoni Capdevila
,
Josep Blanch
,
Rafael Artuch
,
Mercedes Pineda
Journal:
Cerebellum
, vol. 10, no. 1, pp. 1-8, 2011
A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba
(
Citations: 1
)
Luis Velázquez-Pérez
,
Roberto Rodríguez-Labrada
,
Julio Cesar García-Rodríguez
,
Luis Enrique Almaguer-Mederos
,
Tania Cruz-Mariño
,
José Miguel Laffita-Mesa
Journal:
Cerebellum
, vol. 10, no. 2, pp. 184-198, 2011
Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage
(
Citations: 1
)
Franziska Hoche
,
Laszlo Balikó
,
Wilfred den Dunnen
,
Katalin Steinecker
,
Laszlo Bartos
,
Eniko Sáfrány
,
Georg Auburger
,
Thomas Deller
,
Horst-Werner Korf
,
Thomas Klockgether
,
Udo Rüb
,
Bela Melegh
Journal:
Cerebellum
, vol. 10, no. 2, pp. 245-253, 2011
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