6 research outputs found
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
- Author
- Bharucha N.E.
- Bowcock A.M.
- Braverman M.S.
- Burt T.
- Cancel G.
- Cooper J.A.
- E C Twist
- G A Rouleau
- Gerken S.C.
- Gyapay G.
- Harding A.E.
- Healton E.B.
- Hodge S.E.
- In Sequeiros J.
- J Radvany
- Jain S.
- Kitamura J.
- L A Farrer
- L K Casaubon
- Lathrop G.M.
- M H Ruttledge
- McKusick V.A.
- Nagafuchi S.
- Nakano K.K.
- Ott J.
- Ott J.
- P M Macleod
- R N Rosenberg
- Radvany J.
- Rosenberg R.N.
- Rosenberg R.N.
- Rouleau G.A.
- Sachdev H.S.
- Sakai T.
- Sequeiros J.
- Stevanin G.
- Takiyama Y.
- true
- Twist E.C.
- V S Rao
- Warner T.T.
- Woods B.T.
- Yakura H.
- Yuasa T.
- Z Zhao
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
- Author
- A. Brice
- A. Durr
- AR La Spada
- Barbeau A.
- Burt T.
- Cancel G.
- Chung M.-Y.
- Duyao M.
- E. Cassa
- E. Jardim
- G. Cancel
- G. Stevanin
- Genet Nature
- Goldberg-Stem H.
- Harding A.E.
- Kawakami H.
- Maruyama H.
- Matilla T.
- Myers R.H.
- N. Abbas
- Nagafuchi S.
- Nagafuchi S.
- Orr H.T.
- P. S Sousa
- Rosenberg R.N.
- Sasaki H.
- Sequeiros J.
- Sequeiros J.
- Squitieri F.
- Stevanin G.
- Stevanin G.
- Takiyama Y.
- Takiyama Y.
- Telenius H.
- true
- Twist E.C.
- Y. Agid
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Neurofibromatosis and Associated Tumour Suppressor Genes
- Author
- Abernathy
- Algrain
- Algrain
- Andersen
- Ballester
- Bar-Sagi
- Basu
- Berryman
- Bianchi
- Bijlsma
- Bollag
- Bollag
- Bos
- Bourn
- Bourn
- Bourn
- Brannan
- Burridge
- Cawthon
- Collins
- Declue
- Den Bakker
- Den Bakker
- Dublin
- E.C. Zwarthoff
- Easton
- Egan
- Englefield
- Evans
- Evans
- Fahsold
- Glavac
- Goldgar
- Gregory
- Grifa
- Gutmann
- Heim
- Hoang-Xuan
- Huson
- Huson
- Irving
- Jacks
- Jacoby
- Johnson
- Kayes
- Kluwe
- Knudson
- Knudson
- Lazaro
- Legius
- Legius
- Lekanne Deprez
- Li
- Li
- Luna
- Lutchman
- Maccollin
- Maccollin
- Macollin
- Marchuk
- Martin
- Martuza
- Merel
- Merel
- Meyers
- Nijssen
- O’connell
- Papi
- Parry
- Purandare
- Purandare
- Purandare
- Robinson
- Roest
- Rouleau
- Rouleau
- Rouleau
- Rubio
- Ruttledge
- S Trofatter
- Sainz
- Sainz
- Sanson
- Sartin
- Sato
- Seizinger
- Seizinger
- Sekido
- Shannon
- Skolnick
- Takeshima
- Takeuchi
- The
- Tikoo
- Tsukita
- Tsukita
- Turunen
- Twist
- Upadhyaya
- Valero
- Viskochil
- Von Recklinghausen
- Wallace
- Watson
- Wellenreuther
- Wishart
- Xu
- Xu
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Molecular characteristics of Machado-Joseph disease mutation in 25 newly described Brazilian families
- Author
- Abelardo Q.C. AraĂşjo
- Andrew S.E.
- André S. Santos
- Bell J.
- Brunt E.R.P.
- Burt T.
- Campuzano V.
- Cancel G.
- Caskey T.C.
- Chung M.Y.
- Coutinho P.
- Coutinho P.
- Erika M. Viana
- Francisco Cardoso
- G.A. Rouleau
- HĂ©lio G.A. Teive
- Imbert G.
- Iscia Lopes-Cendes
- Iughetti P.
- Jaderson C. da Costa
- Jayme A. Maciel
- Kawaguchi Y.
- Koide R.
- LaSpada A.R.
- Lima L.
- Lopes-Cendes I.
- Lopes-Cendes I.
- Lopes-Cendes I.
- Maciel P.
- Maria E. Calcagnotto
- Marylene Rousseau
- Nagafuchi S.
- Nakano K.K.
- Orr H.T.
- Paulo C. Trevisol-Bittencourt
- Penrose L.S.C.
- Pulst S.-M.
- Ranum L.P.W.
- Richards R.I.
- Romanul F.C.A.
- Rosenberg R.N.
- Ross C.A.
- Sambrook J.
- Sampei K.
- Schöls L.
- Sequeiros J.
- Sequeiros J.
- Silveira I.
- Stevanin G.
- Stevanin G.
- Strachan T.
- Sutherland G.R.
- Takiyama Y.
- Teive H.A.G.
- Twist E.C.
- Zhou Y.X.
- Zhuchenko O.
- Zoghbi H.Y.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
The inherited ataxias and the new genetics.
- Author
- Banfi S.
- Banfi S.
- Belal S.
- Benomar A.
- Browne D.L.
- Burck U.
- C Ben Hamida
- Carvajal J.J.
- Chamberlain S.
- Duclos F.
- Ducros A.
- Durr A.
- Durr A.
- Enevoldson T.P.
- Filla A.
- Friedreich N.
- G De Michele
- Gardner K.
- Geoffroy G.
- Gispert S.
- Giunti P.
- Giunti P.
- Gotoda T.
- Gouw L.G.
- Hammans SR, Sweeney
- Harding A.E.
- Harding A.E.
- Harding A.E.
- Harding A.E.
- Jackson J.F.
- Jodice C.
- Jodice C.
- Kawaguchi Y.
- Klockgether T.
- Klockgether T.
- Klockgether T.
- Konigsmark B.W.
- Kramer P.L.
- M-y Chung
- Maruyama H.
- Matilla T.
- Montermini L.
- Nagafuchi S.
- Nikali K.
- Orr H.T.
- Ouahchi K.
- Palau F.
- Ranum L.P.W.
- Robitaille Y.
- Rosenberg R.N.
- S R Hammans
- Silveira I.
- Stevanin G.
- Sudarsky L.
- Takiyama Y.
- Takiyama Y.
- Teh B.T.
- TI' Warner
- Trottier Y.
- true
- true
- Twist E.C.
- Vahedi K.
- Wiillner U.
- Yakura H.
- Zoghbi H.Y.
- Zoghbi H.Y.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Benign Peripheral Nerve Sheath Tumors: Neurofibromas, Schwannomas, and Perineuriomas
- Author
- A. Asamoah
- A. Badache
- A. Bernards
- A. Deimling von
- A. Guha
- A. Guha
- A. Hruska
- A. King
- A. Klein De
- A. Krasnoselsky
- A. Luca De
- A. Mohyuddin
- A. Perry
- A. Perry
- A. Tikoo
- A.A. Sandberg
- A.B. Bianchi
- A.B. Bianchi
- A.B. Trovo-Marqui
- A.D.O. Levi
- A.F. Nascimento
- A.G. Menon
- A.H. Crawford
- A.H. Dayalan
- A.I. McClatchey
- A.I. McClatchey
- A.I. McClatchey
- A.J Ridley
- A.J Ridley
- A.J. Cappione
- A.J. Levine
- A.J. Murray
- A.K. Ashbury
- A.K. Bhattacharyya
- A.L. Halliday
- A.M Bashour
- A.M. Buchberg
- A.M. Joh
- A.O. Stemmer-Rachamimov
- A.O. Stemmer-Rachamimov
- A.W. Lin
- B. Barkan
- B. Dasgupta
- B. Huang
- B. Ponder
- B. Weiss
- B. Wullich
- B.A. Neff
- B.A. Ward
- B.F. O’Reilly
- B.R. Korf
- B.R. Seizinger
- B.R. Seizinger
- B.R. Seizinger
- B.W. Scheithauer
- B.W. Scheithauer
- C. Bernreuther
- C. Giannini
- C. Giannini
- C. Gonzalez-Agosti
- C. Lázaro
- C. Mawrin
- C. Mawrin
- C. Moczygemba
- C. Warren
- C. Zimmer
- C. Ă–rndal
- C.E. Anderson
- C.E.G. Bruder
- C.H. Rickert
- C.H. Ryu
- C.H. Ryu
- C.H. Ryu
- C.L. Wu
- C.O. Hanemann
- C.O. Hanemann
- C.T. Storlazzi
- C.W. Pitchford
- D. Arun
- D. Kaufmann
- D. Lallemand
- D. Mangoura
- D. Muir
- D. Muir
- D. Viskochil
- D. Wilkes
- D.A. Ingram
- D.A. Marchuk
- D.B. Welling
- D.B. Welling
- D.B. Welling
- D.B. Welling
- D.C. Altieri
- D.G. Evans
- D.G.R. Evans
- D.G.R. Evans
- D.G.R. Evans
- D.H. Gutmann
- D.H. Gutmann
- D.H. Gutmann
- D.H. Gutmann
- D.H. Gutmann
- D.H. Kim
- D.H. Ledbetter
- D.H. Viskochil
- D.J. Lee
- D.M. Parry
- D.N. Chadee
- D.N. Louis
- D.N. Louis
- D.P. Huynh
- D.R. Flower
- D.R. Scoles
- D.R. Scoles
- D.R. Scoles
- D.R. Stewart
- D.R. Stewart
- D.V. Kazakov
- D.V. Kazakov
- E. Arai
- E. Arai
- E. Arai
- E. Legius
- E. Legius
- E. Neumann
- E. Rodahl
- E. Serra
- E. Serra
- E. Serra
- E. Serra
- E.C. Twist
- E.I. Surace
- E.K. Bijlsma
- E.K. Bijlsma
- E.M. Petty
- E.M. Sturgis
- E.X. Wei
- F. Boman
- F. Hamaratoglu
- F. Kayaselcuk
- F. Mertens
- F. Mertens
- F. Parente
- F. Petronzelli
- F.-C. Yang
- F.-C. Yang
- G. Ambrosini
- G. Bollag
- G. Bollag
- G. Hung
- G. Mechtersheimer
- G. Sobue
- G. Stenman
- G. Xu
- G. Xu
- G. Yang
- G.-H. Xiao
- G.-H. Xiao
- G.A. Martin
- G.A. Mashour
- G.A. Mashour
- G.A. Rouleau
- G.A. Rouleau
- G.E. Lemke
- G.H. Vries De
- G.P. Nielsen
- G.R. Skuse
- G.R. Skuse
- H. Arakawa
- H. Endo
- H. Jin
- H. Kehrer-Sawatzki
- H. Kehrer-Sawatzki
- H. Kim
- H. Lee
- H. Liapis
- H. Morrison
- H. Morrison
- H. Nakamura
- H. Nemoto
- H. Ponta
- H. Schmidt
- H. Takeshima
- H. Yanagihori
- H.-k Ng
- H.A. Kim
- H.A. Kim
- H.D. Webb
- H.J. Seol
- H.P. Kourea
- H.P. Kourea
- I. Eisenbarth
- I. Feiz-Erfan
- I. Feiz-Erfan
- I. Palmero
- I. The
- I.F. Pollack
- J. Andersson
- J. Andersson
- J. Antinheimo
- J. Antinheimo
- J. Antinheimo
- J. Couturier
- J. Friedman
- J. Lasota
- J. Mark
- J. Mark
- J. Sainz
- J. Sainz
- J. Sainz
- J. Schlegel
- J. Tong
- J. Zucman-Rossi
- J. Zucman-Rossi
- J.A. Harwalkar
- J.A. Murovic
- J.A. Rey
- J.A. Rey
- J.A. Rey
- J.A. Rey
- J.A. Trofatter
- J.B. Rubin
- J.B. White
- J.C. Fanburg–Smith
- J.D. Schaldenbrand
- J.E. Brock
- J.E. DeClue
- J.E. DeClue
- J.F. Fetsch
- J.F. Gusella
- J.H. Chi
- J.H. Tonsgard
- J.J. Ryan
- J.L. Arbiser
- J.L. Hornick
- J.L. Hornick
- J.L. Kissil
- J.L. Lee
- J.L. Rutkowski
- J.M. Friedman
- J.M. Lasak
- J.M. Propp
- J.M. Woodruff
- J.M. Woodruff
- J.M. Woodruff
- J.P. Brockes
- J.R. Sawyer
- J.R. Sawyer
- J.R. Teyssier
- J.S. Waggener
- J.T. Fraenzer
- J.Y. Lee
- J.Y. Lee
- K. Cichowski
- K. Däschner
- K. Golovnina
- K. Ikeda
- K. Kinoshita
- K. Niemczyk
- K. Stefansson
- K. Stephens
- K. Ueki
- K. Wimmer
- K. Yohay
- K.H. Yohay
- K.K. Mantripragada
- K.K. Mantripragada
- K.K. Mantripragada
- K.M. Schulze
- K.M. Shannon
- K.S. Vogel
- K.S.G. Cunha
- K.W. Min
- L. Fishbein
- L. Gorunova
- L. Gorunova
- L. GĂłmez
- L. Kluwe
- L. Kluwe
- L. Kluwe
- L. Kluwe
- L. Kluwe
- L. Kluwe
- L. Kopelovich
- L. Lassaletta
- L. Ottini
- L. Sherman
- L. Sherman
- L. Side
- L. Walker
- L. Walker
- L.-G. Bian
- L.B. Andersen
- L.B. Andersen
- L.B. Jacoby
- L.B. Jacoby
- L.B. Jacoby
- L.B. Jacoby
- L.E. Side
- L.E. Side
- L.G. Bian
- L.J. Fang
- L.J. Metheny
- L.M. Messiaen
- L.M. Messiaen
- L.Q. Le
- L.R. Vitis De
- L.S. Sherman
- M. Aghi
- M. Bhattacharjee
- M. Gronholm
- M. Hameed
- M. Hameed
- M. Hassounah
- M. Katoh
- M. Kirchhoff
- M. Luijten
- M. MacCollin
- M. MacCollin
- M. Miettinen
- M. Miettinen
- M. Peyrard
- M. Rahmatullah
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Sainio
- M. Sarlomo-Rikala
- M. Serrano
- M. Stark
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M.-J. Lee
- M.-X. Zou
- M.A. Khalifa
- M.C. Fargnoli
- M.D. Begnami
- M.D. Ricciardone
- M.E. Baser
- M.E. Baser
- M.E. McLaughlin
- M.E. McLaughlin
- M.E. McMenamin
- M.E.T. Zöller
- M.H. Ruttledge
- M.H. Ruttledge
- M.H. Ruttledge
- M.H. Ruttledge
- M.H. Shen
- M.J. Bello
- M.J. Bello
- M.J. Bello
- M.M. Daston
- M.R. Ahmadian
- M.R. Hansen
- M.R. Hansen
- M.R. Hansen
- M.R. Toliat
- M.R. Wallace
- M.R. Wallace
- M.S. Stonecypher
- M.T. Seppälä
- N. Holtkamp
- N. Holtkamp
- N. Hoshi
- N. Kley
- N. Manchanda
- N. Morioka
- N. Reed
- N. Yan
- N.E. Joste
- N.P. Agaram
- O. Maertens
- O. Reish
- O.N. Gottfried
- P. Gonzalez-Gomez
- P. Herrlich
- P. Lodding
- P. MĂ©rel
- P. Riva
- P. Shearer
- P. Wolkenstein
- P.C. Ma
- P.D. Pelton
- P.E. Leone
- P.G. Buckley
- P.H. Aguiar
- P.H. Bikhazi
- P.J. Fialkow
- Q. Deng
- Q. Wang
- R. Ballester
- R. Pinkas-Kramarski
- R. Pinkas-Kramarski
- R. Ribeiro
- R. Schneider-Stock
- R. Sciot
- R. Woods
- R. Wu
- R.A. Heim
- R.A. Lothe
- R.A. Sobel
- R.B. Oliveira
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.G. Tawk
- R.H. Lekanne Deprez
- R.J. Packer
- R.J. Shaw
- R.K. Wolff
- R.K. Yantiss
- R.L. Martuza
- R.M. Cawthon
- R.M. Irving
- R.M. Irving
- R.M. Irving
- R.T. Mott
- S GĂĽran
- S. Birindelli
- S. Burden
- S. Hirota
- S. Hoffmeyer
- S. Hoffmeyer
- S. Hunter
- S. Oguzkan
- S. Sawada
- S. Shapira
- S. Sheela
- S. Tinschert
- S. Tsukita
- S. Ă–guzkan
- S.A. Rasmussen
- S.A. Soslash
- S.D. Colman
- S.I. Hajdu
- S.L. Carroll
- S.L. Carroll
- S.L. Thomas
- S.M. Huson
- S.M. Purcell
- S.P. Cheng
- S.R. Rogatto
- S.S. Scherer
- S.V. Nandula
- S.W. Fine
- S.W. Weiss
- T. Diaz de Stahl
- T. Fukuda
- T. Hirose
- T. Hitotsumatsu
- T. Ikeda
- T. Ishida
- T. Ishida
- T. Kadono
- T. Kadono
- T. Kino
- T. Koga
- T. Koga
- T. Koh
- T. Martinsson
- T. Motoi
- T. Muranen
- T. Ogata
- T. Okada
- T. Raedt De
- T. Raedt De
- T. Rosenbaum
- T. Rosenbaum
- T. Rosenbaum
- T. Shimizu
- T. Tucker
- T. Utermark
- T. Utermark
- T. Utermark
- T. Watanabe
- T.E. Raevaara
- T.J.M. Hulsebos
- T.N. Basu
- T.S. Emory
- T.W. Glover
- U. Yamaguchi
- U.N.M. Rao
- U.N.M. Rao
- V. Bernardis
- V. Sirén
- V.M. Riccardi
- V.M. Riccardi
- V.M. Riccardi
- W. Krone
- W.B. Laskin
- W.M. Chadduck
- W.M. Molenaar
- W.R. Kanter
- W.Y.W. Tsang
- Y. Hirokawa
- Y. Kamata
- Y. Kimura
- Y. Kimura
- Y. Li
- Y. Li
- Y. Li
- Y. Nakai
- Y. Nakai
- Y. Takazawa
- Y. Tang
- Y. Wang
- Y. Yoshimoto
- Y. Zhu
- Y. Zhu
- Y.-W Zhang
- Y.Y. Hou
- Z. Xiong
- Z. Xiong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study