7 research outputs found
Autosomal recessive ataxias: 20 types, and counting
- Author
- Anttonen A-K
- Arita M
- Barbot C
- Barkhof F
- Berginer VM
- Berriot-Varoqueaux N
- Bomar JM
- Bouchard J-P
- Cavalier L
- Chun HH
- Cooper JM
- David Schlesinger
- Delia D
- Di Leo E
- Duquette A
- El-Khamisy SF
- Emília Katiane Embiruçu
- Farr AK
- Federico A
- Fernando Kok
- Fernet M
- Ferrarini M
- Fogel BL
- Gallus GN
- Glass HC
- Gonçalves S
- Gueven N
- Gücüyener K
- Hayakawa Y
- Hebert MD
- Jansen GA
- Koskinen T
- Lagier-Tourenne C
- Le Ber I
- Le Ber I
- Lönnqvist T
- Marcília Lima Martyn
- Mariotti C
- Marzouki N
- Milone M
- Montero R
- Musumeci O
- Nikali K
- Ouyang Y
- Palau F
- Pandolfo M
- Parisi MA
- Perlman S
- Quinzii CM
- Rötig A
- Senderek J
- Takashima H
- Taylor AMR
- Taylor AMR
- Tazir M
- Türkmen S
- Valente EM
- Van Goethem G
- Wanders RJA
- Wierzbicki AS
- Winterhun S
- Zaki MS
- Zamel R
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Autosomal recessive cerebellar ataxias
- Author
- A Chio
- A Cruz-Martinez
- A Durr
- A Filla
- A Filla
- A Filla
- A Filla
- A Kohlschütter
- A Nystuen
- A Ozeren
- A Ramazzotti
- A Richter
- A Rotig
- A Rotig
- A Wong
- AE Harding
- AE Harding
- AE Harding
- AE Harding
- AH Hakonen
- AK Anttonen
- AL Bulteau
- ASHT Wierzbicki
- B Sturm
- BJ Keats
- C Barbot
- C Bartolo
- C Criscuolo
- C Klein
- C Lagier-Tourenne
- C Lagier-Tourenne
- C Lagier-Tourenne
- C Lamperti
- C Tranchant
- C Zuhlke
- Carmen Espinós
- CC Shoulders
- CJ Whitehouse
- CM Quinzii
- D Hernandez
- D Satran
- D Sharp
- DL Svoboda
- DM Van den Brink
- DP Muller
- DP Muller
- E Azizi
- E Lamantea
- E Lesuisse
- E Monros
- E Monros
- EM Valente
- EM Valente
- F Foury
- F Palau
- F Palau
- Francesc Palau
- G Chen
- G Davidzon
- G De Michele
- G De Michele
- G Duby
- G El Euch-Fayache
- G Ferrari
- G Geoffroy
- G Musco
- G Salen
- G Tan
- G Van Goethem
- G Van Goethem
- G Van Goethem
- GA Jansen
- GA Jansen
- GA Jansen
- GS Grieco
- GS Stewart
- H Koutnikova
- H Koutnikova
- H Puccio
- H Puccio
- H Seznec
- H Shimazaki
- H Takashima
- I Le Ber
- I Le Ber
- I Pascual-Castroviejo
- J Adamec
- J Berciano
- J Berciano
- J Canizares
- J Gerber
- J Norgauer
- J Senderek
- JA Sayer
- JB Lamarche
- JB Schulz
- JC Engert
- JC Engert
- JE Cleaver
- JG Gleeson
- JJ Cali
- JJ Higgins
- JJ Higgins
- JJ Higgins
- JL Bradley
- JM Bomar
- JM Van Raamsdonk
- JN Spelbrink
- JR Wetterau
- K C Chantrel-Groussard
- K Christodoulou
- K Nikali
- K Ohashi
- K Ohshima
- K Ouahchi
- K Saar
- K Savitsky
- L Cavalier
- L Merlini
- L Schols
- LC Keeler
- LH Thompson
- M Alter
- M Arita
- M Babcock
- M Ben Hamida
- M Castori
- M Cossee
- M Cossee
- M Cossee
- M De Braekeleer
- M De Braekeleer
- M De Castro
- M De Castro
- M Koenig
- M Koenig
- M Kostrzewa
- M Kuriyama
- M Mancuso
- M Pandolfo
- M Ragno
- M Rantamaki
- M Ristow
- MA Parisi
- MA Pook
- MB Delatycki
- MC Moreira
- MC Moreira
- MF Linton
- MG Hanna
- MG Traber
- MG Traber
- MG Traber
- MH Lee
- MH Moghadasian
- N Braverman
- N Gueven
- N Jabado
- N Sakamoto
- O Combarros
- O Gakh
- O Musumeci
- P González-Cabo
- P Mosesso
- P Rustin
- P Rustin
- P Smeyers
- PC Gates
- PJ Willems
- R Artuch
- R Lodi
- R Lodi
- RA Gatti
- RA Gatti
- RB Wilson
- RB Wilson
- RB Wilson
- RJ Ferland
- RK Naviaux
- RK Naviaux
- RP Vazquez-Manrique
- S Chamberlain
- S Di Donato
- S Di Giovanni
- S Gilad
- S Jiralerspong
- S Kahlert
- SG Becker-Catania
- SI Bidichandani
- SI Bidichandani
- SJ Mihalik
- SM Forrest
- SS Branda
- T Gasser
- T Gotoda
- T Klockgether
- T Klockgether
- T Ogawa
- T Yokota
- TJ Gibson
- TM Narcisi
- U Muhlenhoff
- V Campuzano
- V Campuzano
- V Meiner
- VM Berginer
- VM Berginer
- YZ Chen
- Publication venue
- BioMed Central
- Publication date
- 01/01/2006
- Field of study
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000), ataxia-telangiectasia (1–2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia
SIL1 Rescued Bip Elevation-Related Tau Hyperphosphorylation in ER Stress
- Author
- AK Anttonen
- BM Gardner
- D Vilimek
- DP Baluch
- GJ Buttrick
- H Hayashi
- HJ Kim
- Hong-Bin Luo
- HR Shi
- I Grundke-Iqbal
- IG Haas
- J Howes
- J Senderek
- JA Moreno
- Jian-Zhi Wang
- Jiang Chu
- Jie Song
- JJ Hoozemans
- JR Tyson
- JS Shen
- KT Chung
- L Lin
- L Zhao
- L Zhao
- Li Lin
- Lin-Na Ning
- M Lesort
- M Morris
- M Yan
- MG Spillantini
- N Naidoo
- Na Qu
- P Lei
- Qi Zhang
- Qing Tian
- QM Wang
- Qun Wang
- R Resende
- S Munro
- Shu-Sheng Yang
- SJ Liu
- SM Chafekar
- T Isagawa
- T Katayama
- VH Cornejo
- VM Lee
- WC Weng
- XA Liu
- Y Qian
- Yan Shi
- Zan-Chao Liu
- ZC Liu
- ZQ Fu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Attitudes Toward Mathematics
- Author
- Anttonen RG
- Banks JH
- Bassham H
- Brown ED
- Brown EE
- Campbell DT
- Cattell RB
- Cleveland GA
- Collier CC
- Comley RE
- Cronbach LJ
- Davis OL
- Degnan JA
- Devine DF
- Dutton WH
- Dyer HS
- Ellingston JB
- Fedon JP
- Feierabend RL
- Festinger L
- Garner MV
- Gee BC
- Gladstone R
- Harrington LG
- Hooten JR
- Hungerman AD
- Husén T
- Jackson PW
- Jones T
- Kane RB
- Kaprelian G
- Karas SF
- Krathwohl DR
- Lambert P
- Lerch HH
- Lewis R. Aiken
- Lyda WJ
- McDermott LA
- McGowan E
- Morrisett LN
- Natkin GL
- Neale DC
- Nealeigh TR
- Osborn KH
- Peskin AS
- Phelps J
- Proctor AD
- Purcell WJ
- Reys RE
- Rice JM
- Roberts F
- Rosenthal R
- Shapiro EW
- Shaw ME
- Smith F
- Stephens L
- Stright VM
- Thorndike RL
- Thorndike RL
- Todd RM
- Tulock MK
- Very PS
- Weaver JF
- Werdelin I
- White MJA
- Wickes HE
- Wilson GM
- Wilson JW
- Woodall PG
- Wozencraft M
- Yasui RY
- Zschocher S
- Publication venue
- 'American Educational Research Association (AERA)'
- Publication date
- Field of study
Die Scharlachschutzimpfung
- Author
- A Ehinger
- A Grumbach
- A Kozlowski
- A Wallerström
- A Zingher
- AF Lash
- AH Stock
- AHG Burton
- AR Dochez
- B Rappaport
- C Baldovin
- C Baldovin
- C Steinkopf
- C Wang
- C Zoeller
- CA Feldman
- CLP Trüb
- E Kröger
- E Peretti
- EH Place
- ER Krumbiegel
- F Bormann von
- F Bormann von
- F Faragò
- FA Stevens
- FA Stevens
- FG Blake
- FG Hobson
- G Caronta
- G Caronta
- G Christiansson
- G Wildführ
- GD Belonovsky
- GF Dick
- GF Dick
- GF Dick
- GF Dick
- GF Dick
- GF Dick
- GF Dick
- GF Dick
- GH Eagles
- GM Schwarz
- GR James
- GW Anderson
- HL Waal de
- HM Jettmar von
- HM Woods
- I Zahradnický
- I Zahradnický
- J Hörmann
- J Litt
- J Paunz
- J Simpson
- J Smith
- J Wickström
- J. Celarek
- JF Landon
- JN Henry
- JP Koehler
- JY Moreinis
- L Erdös
- LB Belajane
- M Bardach
- M Ciuca
- M Giuffré
- M Handloser
- M Woronina
- MH Gordon
- MP Isabolinsky
- NI Chramova
- O Moltke
- OB Nesbit
- OE Maouerman
- PS Rhoads
- PV Pavlov
- PV Pavlov
- R Bergman
- R Debré
- R Huss
- R Lopatizki
- RA Kiusella
- RC Negro
- RE Bader
- RH Regamey
- S Korschun
- S Korschun
- S Meyer
- SB Hooker
- SJ Zlatogoroff
- SJ Zlatogoroff
- SL Mitelman
- SM Hindman
- T Toyoda
- T Toyoda
- T Toyoda
- VD Allison
- VI Ioffe
- VK Volk
- VK Volk
- VM Anttonen
- VT Busilă
- W Anders
- W Colby
- W Grunke
- W Schultz
- W Schäfer
- W Schäfer
- WF Petersen
- WH Park
- WL Koerber
- WN Dunnet
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1965
- Field of study
The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease
- Author
- A McCampbell
- A Pyle
- A Romano
- A Wyttenbach
- A Wyttenbach
- A Xu
- A Zourlidou
- AC Ng
- AG Cashikar
- AJ Ross
- AJ Williams
- AK Anttonen
- AK Anttonen
- AM Cuervo
- AM Cuervo
- AM Wang
- B Bukau
- B Burnett
- B Kleizen
- B Lu
- B Malik
- B Tang
- B Tang
- B Westhoff
- C Schusdziarra
- C Soti
- CA Ross
- CJ Cummings
- CJ Cummings
- CK Bailey
- CM Dobson
- D Aechan
- D Kieran
- D Mokranjac
- D Mokranjac
- D Sinha
- DA Parfitt
- DA Parfitt
- DL Stenoien
- DL Stone
- DS Mackay
- DW Neef
- E Smirnova
- F Ezgu
- FC Nucifora Jr
- FU Hartl
- G Kozlov
- G Schaffar
- H Adachi
- H Houlden
- H Sakahira
- HH Kampinga
- I Al-Ramahi
- J Couthouis
- J Demand
- J Dudek
- J Estaquier
- J Hageman
- J Hargitai
- J Hidalgo-de-Quintana
- J Howes
- J Irobi
- J Jiang
- J Leitman
- J Luders
- J Sarparanta
- J Senderek
- J Shorter
- J Visy
- J1 Labbadia
- JC Engert
- JC Kim
- JF Anderson
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- JL Howarth
- JL Howarth
- JL Wacker
- JM Barral
- JP Chapple
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- JP Taylor
- JR Porter
- JY Choi
- JZ Chuang
- K Brandner
- K Kijima
- K Sroka
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- KM Davey
- KN Truscott
- KT Chung
- L Zhao
- LH Pearl
- M Arrasate
- M Cushman-Nick
- M Duchniewicz
- M Ehrnsperger
- M Eriguchi
- M Girard
- M Grynberg
- M Haslbeck
- M Hayashi
- M Kamionka
- M Litt
- M Stefani
- M Synofzik
- M Waza
- MA Karim
- MA Rujano
- MB Harms
- ME Cheetham
- ME Cudkowicz
- MH Martin
- MJ Vos
- ML Duennwald
- MM Sohocki
- MS Hipp
- N Fujikake
- N Gebert
- N Katsanis
- N Martin
- N Norton
- N Schwarz
- NM Bonini
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- O Hansson
- O Iosefson
- OV Evgrafov
- P Connell
- P Kazemi-Esfarjani
- P Lajoie
- P Vicart
- PD D’Silva
- PJ Muchowski
- PL Greer
- Q He
- R Parvari
- S Alberti
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- S Frank
- S Kim
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- S Mitra
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- SW Taylor
- T Ojala
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- TD Mueller
- U Schwahn
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- W-H Chang
- XC Gao
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- Y Kuo
- Y Ouyang
- YJ Lee
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- Z Li
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Allgemeine Radiologie und Morphologie der Knochenkrankheiten
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- A Ascenzi
- A Ascenzi
- A Benezowski
- A Benninghoff
- A Benninghoff
- A Bidder
- A Brunschwig
- A Büll
- A Büll
- A Chatelein
- A Engström
- A Engström
- A Fanconi
- A Fonio
- A Gebauer
- A Grassberger
- A Jung
- A Klümper
- A Klümper
- A Leri
- A Lichtwitz
- A Lichtwitz
- A Lichtwitz
- A Liechti
- A Lob
- A Lunderquist
- A Neiss
- A Norman
- A Nussbaum
- A Pinard
- A Pohner
- A Policard
- A Prader
- A Ravelli
- A Schupbach
- A Schüller
- A Schüller
- A Streda
- A Vogt
- A Weiss
- A. Büll
- A. Dhem
- A. Hopf
- AB Rossier
- AC Brower
- AC Brower
- AC Brower
- AH Huggler
- AJ Moos
- AJ Olah
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- AJ Olah
- Alwens
- AN Jacobs
- AR Winterberger
- AS Posner
- AW Ham
- B Engfeldt
- B Frame
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- B Krempien
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- B. Engfeldt
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- Bandförmige Osteolysen in den End¬phalangen des Handskeletts
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- BEC Nordest
- BEC Nordest
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- BL Pear
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- Bofinger
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- C. A. Baud
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- Chr. I. Baastrup
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- Derivate. Grenzgeb
- DH Carlson
- DH Collins
- DH Copp
- DH Enlow
- DJ Deller
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- DJ McCarty
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- DJ McCarty
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- DK Harris
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- ED Sedlin
- EE Brant
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- El Wilke
- EM Alhava
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- Y Ayakawa
- York-Toronto-London
- Z Banki
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1976
- Field of study