12 research outputs found
Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Ataxies autosomales dominantes (SCAs)
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2013
- Field of study
Hereditary spinal neurofibromatosis: a rare form of NF1?
- Author
- Ainsworth P.J.
- Bourn D.
- Charrow J.
- Colman S.D.
- E L Leisti
- Egelhoff J.C.
- Evans D.G.R.
- Gyapay G.
- Halliday A.L.
- Huson S.M.
- Huson S.M.
- J Leisti
- Lathrop G.M.
- Lazaro C.
- Lazaro C.
- Louis D.N.
- M Poyhonen
- Mulvihill J.J.
- Pulst S.-M.
- Riccardi V.M.
- Rodenhiser D.I.
- S Kytola
- Seppala M.T.
- Shen M.H.
- Stumpf D.A.
- Viskochil D.
- von Deimling A
- Weinstock A.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Identification of a candidate gene associated with isoflavone content in soybean seeds using genomeâwide association and linkage mapping
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.
- Author
- A E Harding
- Bourn D.
- D G Evans
- Evans D.G.R.
- Evans D.G.R.
- Evans D.G.R.
- Evans D.G.R.
- Fisher E.R.
- Halliday A.L.
- Honda M.
- Izumi A.K.
- Kanter W.R.
- M Ponder
- MacCollin M.
- Merel P.
- National Institutes of
- Norton K.K.
- Pulst S.M.
- Purcell S.M.
- Riccardi V.M.
- Rouleau G.
- Rouleau G.A.
- S M Huson
- S Mason
- Sainz J.
- Sambrook J.
- Seizinger B.R.
- Shishiba T.
- T Strachan
- Troffater J.A.
- Viskochil D.
- Weissenbach J.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Severe chorea after acute carbon monoxide poisoning.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
- Author
- A. Barnicoat
- Abeliovich
- Allanson
- Ars
- Ars
- Arun
- B. Kerr
- Ball
- Baralle
- Basu
- Bentires-Alj
- Brunner
- Burke
- C. Consoli
- C. Lazaro
- Calladine
- Carey
- Cartegni
- Castle
- Charrow
- Chuzhanova
- Cichowski
- Cnossen
- Cnossen
- Colley
- D. Adams
- D. Baralle
- D. Stevenson
- D. Viskochil
- D.G. Evans
- De Raedt
- DeBella
- DeLuca
- Dorschner
- DâAngelo
- E. Haan
- E. Howard
- Easton
- Easton
- Fahsold
- Friedman
- Friedman
- Griffiths
- Gusev
- H. Li
- Hebsgaard
- Huson
- Izawa
- J.P. Van Biervliet
- Kayes
- Khosrotehrani
- Klose
- Kluwe
- Korf
- L. Messiaen
- L. Side
- Leppig
- Lin
- Lopez-Correa
- M. Davies
- M. Pierpont
- M. Upadhyaya
- Maertens
- Marchuk
- Martin
- Mattocks
- Mattout
- Messiaen
- Messiaen
- N. Chuzhanova
- N. Thomas
- P. Turnpenny
- P. Wallace
- Poyhonen
- Pulst
- R. Hachen
- Rasmussen
- Reese
- Ripley
- S. Giovannini
- S. Griffiths
- S.M. Huson
- Scheffzek
- Schorry
- Serra
- Shen
- Spiegel
- Stevenson
- Streisinger
- Szudek
- Szudek
- Tassabehji
- Thakkar
- Tonsgard
- Tonsgard
- Upadhyaya
- Upadhyaya
- Upadhyaya
- Upadhyaya
- Upadhyaya
- Upadhyaya
- Upadhyaya
- V. Riccardi
- Venturin
- Viskochil
- Wimmer
- Wu
- Zatkova
- Zhu
- Publication venue
- 'University of Chicago Press'
- Publication date
- 08/12/2006
- Field of study
Neurofibromatosis type 1 (NF1) is characterized by cafe-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown
Neurofibromatosis type 1 & Related Disorders
- Author
- A. Bernards
- A. Broniscer
- A. Carella
- A. Colley
- A. CrĂšange
- A. Guha
- A. Gupta
- A. Hajra
- A. Horwich
- A. John
- A. Kedar
- A. Kurien
- A. Kurtz
- A. Luca De
- A. Manoli
- A. Martin-Gallardo
- A. Ogawa
- A. Pou Serradell
- A. Richetta
- A. Rubenstein
- A. Sarkozy
- A. Schindeler
- A. Verhest
- A. Zanca
- A. Zatkova
- A. Zvulunov
- A.A. King
- A.D. Gitler
- A.E. Brzowski
- A.E. Winter De
- A.G.L. Corkill
- A.H. Crawford
- A.H. Crawford
- A.H. Crawford
- A.J. Barkovich
- A.J. Cappione
- A.J. Silva
- A.L. Halliday
- A.P. Fitzpatrick
- A.P. Griffiths
- A.S. Ishkanian
- A.T. Meadows
- B. Baujat
- B. Castle
- B. Dasgupta
- B. Dasgupta
- B. Ducatman
- B. Maria
- B. Samuelson
- B. Samuelson
- B.A. Akbarnia
- B.C. Chang
- B.C. Widemann
- B.D. Moore III
- B.G. Kousseeff
- B.L. Wu
- B.R. Korf
- B.R. Korf
- B.R. Korf
- B.S. Chang
- B.T. Allan
- B.Z. Garty
- C. Consoli
- C. Gervanasini
- C. Gilberg
- C. Jacquemin
- C. Kuenzle
- C. Li
- C. Lopez-Correa
- C. LĂĄzaro
- C. LĂĄzaro
- C. Moss
- C. Parazzini
- C. Raffel
- C. Tudisco
- C.A. Chapman
- C.E. Fuller
- C.F. Parsa
- C.H. Donnell Mc
- C.L. Witzleben
- C.M. Johannessen
- C.R. Jamieson
- C.S. Specht
- D. A. Von
- D. Abeliovich
- D. Arun
- D. Babovic-Vuksanovic
- D. Baralle
- D. Carmi
- D. Gutmann
- D. Harber
- D. Jadayel
- D. Kaufmann
- D. Kaufmann
- D. Taboada
- D. Viskochil
- D. Whiteside
- D.A. Ingram
- D.A. Largaespada
- D.A. Marchuk
- D.A. Marchuk
- D.A. Stevenson
- D.A. Stevenson
- D.A. Stevenson
- D.F. Easton
- D.G. Hope
- D.H. Gutman
- D.H. Gutman
- D.I. Rodenhiser
- D.J. Bergin
- D.N. Abuelo
- D.P. DiPaolo
- D.R. Bertola
- D.R.G. Evans
- D.R.G. Evans
- D.W. Dunn
- E. Ars
- E. Ars
- E. Ars
- E. Boltshauser
- E. Caprotti
- E. Czyzyk
- E. Deniz
- E. Hess
- E. Legius
- E. Legius
- E. Serra
- E. Serra
- E. Serra
- E. Serra
- E. Sobata
- E. Yumoto
- E.A. Keen Mc
- E.J. Stay
- E.K. Schorry
- F. Grill
- F. Hecht
- F. Sadun
- F.A. Hochberg
- F.C. Yang
- F.H. Menko
- F.J. Perez-Grueso
- F.J. Rodriguez
- F.M. Enzinger
- F.V. Waldassen
- F.W. Crowe
- G. Bollag
- G. Danglot
- G. Gurujeyalakshmi
- G. Magro
- G.F. Xu
- G.F. Xu
- G.F. Xu
- G.H. Watson
- G.T. Liu
- H. Brunner
- H. Gadner
- H. Hashemian
- H. Hochstrasser
- H. Kehrer-Sawatzki
- H. Kehrer-Sawatzki
- H. Kehrer-Sawatzki
- H. Kehrer-Sawatzki
- H. Lamlum
- H. Li
- H. Suzuki
- H. Suzuki
- H. YĂŒksel
- H.F. Guo
- H.F. Guo
- H.G. Brunner
- H.J. Hoffman
- H.L. Pilmore
- I. Eisenbarth
- I. Izawa
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. Pascual-Castroviejo
- I. The
- I. Vandenbroucke
- I.F. Pollack
- J. Baltrusaitis
- J. Bertholon
- J. Blatt
- J. Ceard
- J. Charrow
- J. DâAmbrosio
- J. Halper
- J. Motte
- J. Peltonen
- J. Pennybacker
- J. Szudek
- J. Szudek
- J. Tong
- J. Zlotogora
- J.A. Fantes
- J.A. Greager
- J.A. Traub
- J.C. Barber
- J.C. Bass
- J.C. Carey
- J.C. Carey
- J.C. Egelhoff
- J.E. Allanson
- J.E. Allanson
- J.E. DeClue
- J.E. DeClue
- J.F. Greene
- J.F. Holt
- J.G. Gurney
- J.H. Chaglassian
- J.J. Hoo
- J.J. Mulvihill
- J.L. Finley
- J.M. Berner
- J.M. Boulanger
- J.M. Friedman
- J.M. Friedman
- J.M. Friedman
- J.M. Gaughran Mc
- J.M. Maris
- J.M. Opitz
- J.M. Woodruff
- J.M. Woodruff
- J.R. Bognanno
- J.S. Guillamo
- J.S. Suh
- K. Cichowski
- K. Cichowski
- K. Cichowski
- K. DeBella
- K. Hosoda
- K. Kulkantrakorn
- K. North
- K. North
- K. North
- K. North
- K. North
- K. Scheffzek
- K. Singh
- K. Stephens
- K. Tashiro
- K. Wimmer
- K. Wimmer
- K. Yilmaz
- K.H. Yang
- K.K. Hiatt
- K.K. Norton
- K.M. Reilly
- K.M. Shannon
- K.M. Shannon
- K.N. North
- K.S. Vogel
- L. Choulant
- L. Colledge
- L. Dugoff
- L. Hagymasi
- L. Kluwe
- L. Kornreich
- L. Laue
- L. Messiaen
- L. Messiaen
- L. Smet De
- L.B. Andersen
- L.C. Fuller
- L.M. Kayes
- L.T. Chow
- M. Akenside
- M. Anagnostouli
- M. Bahuau
- M. Bahuau
- M. Bahuau
- M. Boyanapalli
- M. Castillo
- M. Chang-Lao
- M. Clark
- M. Clementi
- M. El-Koussy
- M. Garvey
- M. Horan
- M. Horan
- M. Kaefer
- M. Kato
- M. Kirsch
- M. Lammert
- M. Lee
- M. Luijten
- M. Luijten
- M. Luijten
- M. Luijten
- M. Macaluso
- M. Negoro
- M. Osborn
- M. Pohymen
- M. Poyhonen
- M. Poyhonen
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Ruggieri
- M. Tartaglia
- M. Tartaglia
- M. Tartaglia
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M. Upadhyaya
- M.A. Hakami
- M.D. Poole
- M.E. Baser
- M.H. Cnossen
- M.H. Cnossen
- M.H. Cnossen
- M.H. Sajid
- M.J. Crawford
- M.J. Eliason
- M.J. Masip
- M.L. Bajenaru
- M.L. Griebel
- M.M. Labardini
- M.M. Sabah
- M.N. Needle
- M.O. Dorschner
- M.R. Ahmadian
- M.R. Johnson
- M.R. Wallace
- M.S. Payne
- M.W. Partington
- N. Clausen
- N.K. Bodhey
- N.L. Finman
- National Institutes of Health Consensus Development Conference Statement
- O. Maertens
- P. Albisi
- P. Balestri
- P. Gasparini
- P. Madigan
- P. Meinecke
- P. Wolkenstein
- P. Wolkenstein
- P.C. Chen
- P.C. Grath Mc
- P.D. Thomson
- P.E. Gregory
- P.J. Ainsworth
- P.K. Thomas
- P.M. Parizel
- P.T. Molloy
- Q. Wang
- Q. Wang
- R. Birch
- R. Cusmai
- R. Fahsold
- R. Gorlin
- R. Gutzmer
- R. Habiby
- R. Happle
- R. Happle
- R. Heimann
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Listernick
- R. Mallmann
- R. Mcfarlane
- R. Segal
- R. Sutphen
- R. Vivarelli
- R. Wittkower
- R.A. Weinberg
- R.C. Rink
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Ferner
- R.E. Friedrich
- R.G. Perrin
- R.H. Hrban
- R.J. Packer
- R.J. Packer
- R.J. Packer
- R.L. Davies
- R.M. Costa
- R.M. Costa
- R.M. Costa
- R.P. Atit
- R.P. Morse
- R.T. Keller
- R.T. Tenny
- S. Alwan
- S. Cakirer
- S. Cambiaghi
- S. Dulai
- S. Duve
- S. Hoffmeyer
- S. Lipton
- S. Oguzkan
- S. Purandare
- S. Savasan
- S. Sawada
- S. Tinschert
- S. Wullschleger
- S.A. Erbay
- S.A. Rasmusen
- S.A. Rasmusen
- S.A. Sorensen
- S.A. Thomson
- S.D. Colman
- S.J. Hamilton
- S.J. Miller
- S.L. Tow
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Huson
- S.M. Lederman
- S.M. Pierce
- S.M. Pulst
- S.R. Uhlin
- T. Artaza
- T. Illes
- T. Jacks
- T. Kuorilehto
- T. Lehrnebecher
- T. Ogawa
- T. Quattrin
- T. Raedt De
- T. Raedt De
- T. Raedt De
- T. Rosenbaum
- T. Rosser
- T.A. Tomsick
- T.J. Hulsebos
- T.N. Basu
- U. Aldrovandi
- V. Ingordo
- V. Suzuki
- V. Wiest
- V.F. Mautner
- V.M. Park
- V.M. Riccardi
- V.M. Riccardi
- V.M. Riccardi
- W. Tega
- W. Tinschert
- W.B. Lehman
- W.F. Hoyt
- W.G. Tilesius von Tilenau
- W.H. Burgdorf
- W.I. Schievink
- W.R. Salyer
- W.S. Kearse Jr
- X. Yu
- Y. Li
- Y. Li
- Y. Takamiya
- Y. Zhu
- Y.P. Hsueh
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study
Characterization of intracellular aggregates using fluorescently-tagged polyglutamine-expanded androgen receptor
- Author
- A. Hackam
- A. Kazantsev
- A. Lescure
- A. Lunkes
- A. Matilla
- A.A.R. Abdullah
- A.R. LaSpada
- B.P. Brooks
- Bruce Gottlieb
- C-A. Gutekunst
- C.A. Ross
- C.J. Cummings
- C.J. Cummings
- C.L. Wellington
- D. Martindale
- D.E. Merry
- D.L. Stenoien
- F. Saudou
- G. David
- G. Imbert
- G. Jenster
- G. Sobue
- H. Ikeda
- H.L. Paulson
- H.L. Paulson
- H.T. Orr
- H.Y. Zoghbi
- Huntingtonâs Disease Collaborative Research Group
- Hyman Schipper
- I. Gourfinkel-An
- I. Sanchez
- I.A. Klement
- J.G. Hodgson
- J.K. Cooper
- J.M. Ordway
- J.M. Warrick
- K. Kuida
- K. Miwa
- K. Sanpei
- K.L. Moulder
- K.S. Bok
- L.K. Beitel
- L.M. Ellerby
- Lenore K. Beitel
- Leonard Pinsky
- M. DiFiglia
- M. Holmberg
- M. Kim
- M. Li
- M. Li
- M.D. Koob
- M.F. Perutz
- M.K. Perez
- M.W. Becher
- Mark A. Trifiro
- Michael Timiansky
- N.D. Zegers
- P. Kahlem
- P. Kazemi-Esfarjani
- P. Kazemi-Esfarjani
- P.H. Reddy
- P.J. Skinner
- R. Koide
- S. Igarashi
- S. Koyano
- S. Kummerle
- S. Nagafuchi
- S. Simeoni
- S.M. Pulst
- S.S. Sisodia
- S.W. Davies
- S.W. Davies
- T. Miyashita
- T. Miyashita
- T. Okajima
- T.-W. Kim
- V. Georget
- Valerie Panet-Raymond
- W.R. Kennedy
- Y. Kawaguchi
- Y. Kobayashi
- Y. Trottier
- Y.Pl Goldberg
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The epidemiology and genetics of Amyotrophic lateral sclerosis in China
- Author
- Aaron D. Gitler
- Al-Chalabi
- Al-Chalabi
- Al-Chalabi
- Arthur
- Bannwarth
- Benyamin
- Brenner
- Brown
- Byrne
- Byrne
- Chen
- Cirulli E.T., Lasseigne, B.N., Petrovski, S., Sapp, P.C., Dion, P.A., Leblond, C.S., Couthouis, J., Lu, Y.F., Wang, Q., Krueger, B.J., Ren, Z., Keebler, J., Han, Y., Levy, S.E., Boone, B.E., Wimbish, J.R., Waite, L.L., Jones, A.L., Carulli, J.P., Day-Williams, A.G., Staropoli, J.F., Xin, W.W., Chesi, A., Raphael, A.R., McKenna-Yasek, D., Cady, J., Vianney de Jong, J.M.B., Kenna, K.P., Smith, B.N., Topp, S., Miller, J., Gkazi, A., Consortium, F.S., Al-Chalabi, A., van den Berg, L.H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C.E., Baloh, R.H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S.M., Gibson, S., Trojanowski, J.Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N.A., Chung, W.K., Ravits, J.M., Glass, J.D., Sims, K.B., Van Deerlin, V.M., Maniatis, T., Hayes, S.D., Ordureau, A., Swarup, S., Landers, J., Baas, F., Allen, A.S., Bedlack, R.S., Harper, J.W., Gitler, A.D., Rouleau, G.A., Brown, R., Harms, M.B., Cooper, G.M., Harris, T., Myers, R.M., Goldstein, D.B.
- Cui
- Deng
- Doi
- Dongsheng Fan
- Elden
- Fen-Biao Gao
- Fong
- Fong
- Freischmidt
- Furuta
- Gao
- Gratten
- Hardiman
- Huang
- Huynh
- Jang
- Ji He
- Johnson
- Kiernan
- Kim
- Kim
- Konno
- Lee
- Li
- Li
- Liu
- Liu
- Liu
- Liu
- Nalini
- Neuenschwander
- Pan
- Shahrizaila
- Shu
- Smith
- Tsai
- Wei
- Wu
- Xiaolu Liu
- Yang
- Yang
- Zaldivar
- Zhou
- Zou
- Zou
- Zou
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study