21 research outputs found
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
- Author
- Arruda WO
- Barkovich AJ
- Berkovic SF
- Bindoff LA
- Boulet L
- Bourgeois JM
- Brackmann F
- Canafoglia L
- Carlos Eduardo S. Silvado
- Chinnery PF
- Cláudia Suemi Kamoi Kay
- Coquet M
- DiMauro S
- DiMauro S
- Ekbom K
- Finsterer J
- Finsterer J
- Folbergrová J
- Fukuhara N
- Fukuhara N
- Goto Y
- Goto Y
- Goto Y
- Hammans SR
- Hasegawa H
- Hasegawa H
- Hirano M
- Ito S
- James AM
- Kazakos K
- Lineu Cesar Werneck
- Lorenzoni PJ
- Lorenzoni PJ
- Mancuso M
- Mancuso M
- Marotta R
- Matsuoka T
- Mita S
- Orcesi S
- Ozawa M
- Ozawa M
- Paepe B
- Paulo José Lorenzoni
- Rosana Herminia Scola
- Rosing HS
- Rossmanith W
- Santorelli FM
- Shahwan A
- Shoffner JM
- Shoffner JM
- Shtilbans A
- Silvestri G
- Sinha S
- So N
- So N
- Tanno Y
- Teive HA
- Tsairis P
- Virgilio R
- Wallace DC
- Yasukawa T
- Yoneda M
- Zeviani M
- Zeviani M
- Zeviani M
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1995
- Field of study
tRNA processing in human mitochondrial disorders
- Author
- A Bodenteich
- A Chomyn
- A Chomyn
- A Torroni
- A Torroni
- A Torroni
- AS Santachiara Benerecetti
- B Kruse
- C Casali
- CT Moraes
- CT Moraes
- D Ojala
- DC Wallace
- DC Wallace
- EA Schon
- F Merante
- F Santorelli
- FM Reid
- FM Santorelli
- G Manfredi
- G Silvestri
- G Silvestri
- H Nakase
- I Nelson
- J Lauber
- J Montoya
- JA Enriquez
- JF Hess
- JM Shoffner
- JM Shoffner
- JM Shoffner
- JMW Ouweland van den
- JP Masucci
- KJ Morten
- KL Yoon
- KL Yoon
- L Excoffier
- LA Bindoff
- M Houshmand
- M Nakamura
- M Sprinzl
- M Tanaka
- M Taniike
- M Zeviani
- M Zeviani
- MD Brown
- MD Brown
- MG Hanna
- MG Sweeney
- MP King
- MP King
- P Kaufmann
- P Seibel
- RL Cann
- RL Cann
- S Anderson
- S Horai
- S Marzuki
- S Mita
- SW Ballinger
- T Obayashi
- T Ozawa
- T Ozawa
- TR Prezant
- V Tiranti
- W Rossmanith
- W Sato
- WM Brown
- Y Goto
- Y Hattori
- Y Koga
- Y Koga
- Y-i Goto
- Y-i Goto
- Y-i Goto
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1996
- Field of study
Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
- Author
- Alexi T
- ALZIRA A.S. CARVALHO
- Averianov IN
- Berenberg RA
- Bourgeron T
- Caparros Lefebvre D
- Charlmers RM
- DeVries DD
- Ferraz HB
- Guyot MC
- Hanna MG
- Jun AS
- Korn Lubetzki I
- Larsson NG
- Lera G
- LUIZ FERNANDO FONSECA
- Macaya A
- Marie SKN
- MARY S. CARVALHO
- Meire FM
- MILBERTO SCAFF
- Nakagawa E
- Reichmann H
- Schapira AH
- Schapira AH
- Schapira AH
- Schulz JB
- Shevell MI
- Shoffner JM
- Shoffner JM
- SUELY K.NAGAHASHI MARIE
- Tabrizi SJ
- Thobois S
- UMBERTINA C. REED
- Vries DD
- Wallace DC
- Wallace DC
- Wilichowski E
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Characteristics of Mitochondrial DNA Diseases
- Author
- A Barrientos
- A Chomyn
- A Lombes
- A Lombes
- A Majander
- A Oldfors
- A Rotig
- A Rötig
- A Suomalainen
- A Suomalainen
- A Verma
- AS Jun
- AW Linnane
- B Kruse
- BH Robinson
- CJ Macmillan
- CL Hoppel
- CT Moraes
- CT Moraes
- CT Moraes
- CT Moraes
- CT Moraes
- CT Moraes
- D Thyagarajan
- DC Wallace
- DC Wallace
- E Ciafaloni
- E Ciafaloni
- E Pegoraro
- EA Schon
- EA Shoubridge
- EK Nikoskelainen
- FM Santorelli
- FM Santorelli
- FM Santorelli
- G Piccolo
- G Silvestri
- G Silvestri
- G Silvestri
- G Singh
- Goto Y-i Nonaka I, Horai S
- Goto Y-i Nonaka I, Horai S
- H Hao
- H Hao
- H Nakase
- H-J Tritschler
- HA Pearson
- IJ Holt
- IJ Holt
- IJ Holt
- J Poulton
- J Poulton
- J Poulton
- J Vilkki
- J-I Hayashi
- JA Enriquez
- JA Kaukonen
- JA Keightley
- JM Shoffner
- JM Shoffner
- JM Shoffner
- JM Shoffner
- JN Spelbrink
- JP Masucci
- JW Taanman
- K Ohno
- KJ Morten
- LA Bindoff
- LN Went
- M Hirano
- M Otsuka
- M Sciacco
- M Yoneda
- M Yuzaki
- M Zeviani
- M Zeviani
- M Zeviani
- M Zeviani
- M Zeviani
- M Zeviani
- MA Mcshane
- MD Brown
- MG Sweeney
- MJ Szabolcs
- MP King
- MX Guan
- N Bresolin
- N Howell
- N-G Larsson
- N-G Larsson
- PM Matthews
- RN Boustany
- S Anderson
- S Collins
- S Dimauro
- S Mita
- S Shanske
- S Takeda
- S. Servidei
- SF Berkovic
- SG Pavlakis
- SW Ballinger
- T Bourgeron
- TP Kearns
- TR Prezant
- V Cormier
- WM Carrol
- Y Campos
- Y Goto
- Y Goto
- Y Ikejiri
- Y Koga
- Y Tatuch
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1998
- Field of study
Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?
- Author
- Bacino C
- Ballinger SW
- Brown MD
- Cann RL
- Casano RA
- Casano RAMS
- Estivill X
- Fischel-Ghodsian N
- Fischel-Ghodsian N
- Gardner JC
- Hutchin T
- Macaulay V
- Matthijs G
- Morelli L
- Pandya A
- Prezant TR
- Ruiz-Pesini E
- Santorelli FM
- Scrimshaw BJ
- Shoffner JM
- Shohat M
- Stoneking M
- Therrell B
- Tono T
- Torroni A
- Torroni A
- Torroni A
- Torroni A
- Usami S
- Usami S
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- Field of study
Structural Studies on Human Mitochondrial tRNAs
- Author
- A Ducruix
- A Krol
- A Shaag
- B Felden
- C Casali
- C Isel
- CT Moraes
- CT Moraes
- D Moras
- D Riesner
- DC Wallace
- E Viani-Puglisi
- E Westhof
- FM Merante
- FM Merante
- FM Santorelli
- FM Santorelli
- FM Santorelli
- G Dirheimer
- G Manfredi
- G Silvestri
- G Silvestri
- G Silvestri
- H Hao
- H Hao
- I Nelson
- I Nishino
- J Lauber
- J-I Hayashi
- JD Puglisi
- JD Robertus
- JM Shoffner
- JM Shòffner
- JMW Ouweland Van den
- K Fu
- K Nagai
- K Sahashi
- K Wakita
- K Weber
- KJ Morten
- KL Yoon
- LA Bindoff
- M El-Schahawi
- M Helm
- M Nakamura
- M Sprinzl
- M Tanaka
- M Taniike
- M Zeviani
- MA Leehey
- ME Saks
- MG Hanna
- MG Sweeney
- MHL DeBruijn
- MP King
- N Gattermann
- N-G Larsson
- NA Kolchanov
- P Lestienne
- P Romby
- P Seibel
- P Seibel
- PF Chinnery
- R Giegé
- R Giegé
- R Giegé
- RF Gesteland
- RM Chalmers
- RW Taylor
- S Anderson
- S Limmer
- S Steinberg
- SH Kim
- T Kawarai
- T Ueda
- T Yokogawa
- V Tiranti
- W Sato
- WH McClain
- Y Goto
- Y Goto
- Y Goto
- Y Goto
- Y Hattori
- Y Kobayashi
- Y Suzuki
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1999
- Field of study
The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy
- Author
- Akira Nakabayashi
- CM Koehler
- FM Santorelli
- HH Dahl
- Hiroto Tajima
- Hiroyoshi Watanabe
- IJ Holt
- J Cummins
- J Steffann
- JM Shoffner
- Kou Sueoka
- M Makino
- MV Ashley
- NL Dean
- P Makela-Bengs
- PF Chinnery
- PF Chinnery
- PJ Laipis
- RB Blok
- S Anderson
- S DiMauro
- S Rahman
- Shingo Kato
- SL White
- SL White
- Soukichi Iwata
- Sung Yung Moon
- T Bourgeron
- Tomoyoshi Sakurai
- Tsuyoshi Hashiba
- WW Hauswirth
- Yasunori Yoshimura
- Yu-Ichi Goto
- Yukitaka Murakoshi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Hereditary skeletal muscle diseases in the horse. A review
- Author
- Andrews FM
- Bailey JE
- Beech J
- Brown BI
- Bryant SH
- Bryant SH
- Cardinet GH
- Cox JH
- Cox JH
- De La Corte FD
- Farnbach GC
- Guglick MA
- Hammel EP
- Harper PS
- Harris PA
- Harris PA
- Hegreberg GA
- Hildebrand S
- Hildebrand S
- Kim CH
- Lentz LR
- McLeay JM
- McLeay JM
- Meijer AE
- Naylor JM
- Naylor JM
- Robinson JA
- Roneus B
- Roses AD
- Shires PK
- Shoffner JM
- Sloet van Oldruitenborgh‐Oosterbaan MM
- Spier SJ
- Valberg SJ
- Valberg SJ
- Valberg SJ
- Valberg SJ
- Valentine BA
- Van Niekerk IJ
- Wentink GH
- White JB
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Inherited Disorders
- Author
- A Hamosh
- A Maddalena
- A Statement
- A Tripodi
- A Tripodi
- A Waheed
- A Zivelin
- AK Webb
- American Hemochromatosis Society
- Anonymous. Population variation of common cystic fibrosis mutations
- AT Merryweather-Clarke
- B Dahlback
- B Kremer
- B Tummler
- B Wilcken
- B Zoller
- BJ Rosenstein
- BR Bacon
- C Ramachandran
- CJ Cummings
- CW Lam
- D Abeliovich
- D Falush
- E Girodon
- E Lyon
- E Ranieri
- ED Kim
- EM Faioni
- EM Schwiebert
- F Bernardi
- FM Ashcroft
- FR Rosendaal
- FR Rosendaal
- HL Levy
- IJ Doull
- J Emmerich
- JA Cohn
- JC Darnell
- JE Mickle
- JE Spence
- JH Walter
- JI Jorquera
- JJ Wine
- JM Shoffner
- JM Shoffner
- JN Feder
- JN Feder
- JR Crossley
- JW Hanrahan
- K Aoki
- KK Steinberg
- LA Lester
- LJ Elsas
- LL Graf
- M Alhenc-Gelas
- M Chillon
- M Daudin
- M Hunter
- M Murphy
- M Pandolfo
- M Suzuki
- M Trossaert
- MC Visser
- NC Andrews
- NH Gehring
- P Kopp
- PE Macchia
- PE Macchia
- PL Zeitlin
- PM Farrell
- PM Nowacki
- PW Miller
- R Bals
- RC McGlennen
- RC Moore
- RC Stern
- RD Press
- RD Utiger
- RG Gregg
- RS Ajioka
- SE Andrew
- SL Nolin
- SR Poort
- T Ashizawa
- T Sunthornthepvarakui
- T Yamazaki
- TM Wohlers
- TR Prezant
- U Seligsohn
- V Brown
- VA Lerys
- VG Evidente
- Witte DL
- WW Grody
- WW Grody
- Y Goto
- Y Goto
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2004
- Field of study