5 research outputs found
A new mutation in DNM2 gene in a large Italian family
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
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- Field of study
No full textApplication of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
- Author
- A Antonellis
- A Hamosh
- A Leal
- A Verma
- ASD Saporta
- BO Byung-Ok Choi
- C Casasnovas
- C DiVincenzo
- CF Boerkoel
- Chris Buxton
- D Niedrist
- Debbie Smith
- E Nelis
- F Zhang
- G Braathen
- Gemma Dennis
- J Li
- J Zhi
- JR Lupski
- JR Lupski
- K Engelfried
- K Szigeti
- K Verhoeven
- M Russo
- MA Saporta
- ME Shy
- MM Reilly
- MN Weedon
- N Barisic
- Natalie Forrester
- O Dubourg
- P Latour
- P Young
- Peter Lunt
- PF Chance
- S Zuchner
- Sarah Burton-Jones
- SM Murphy
- SM Murphy
- Thalia Antoniadi
- VV Lonasescu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textPeripheral Neuropathy and the Role of Nerve Biopsy
- Author
- A Chhabra
- A Vital
- AAWM Gabreels-Festen
- AC Peltier
- AFJE Vrancken
- AK Asbury
- AK Asbury
- AK Asbury
- AP Hays
- ASD Saporta
- B Neundorfer
- BJ Stern
- BO Osuntokun
- C Gabriel
- C Vital
- C-L Pan
- CM Zaidman
- CN Martyn
- D Vincent
- DA Krendel
- DJ O’Sullivan
- DLH Bennett
- F Behse
- F Grahmann
- FC Rose
- G Lauria
- G Lauria
- G Lauria
- G Said
- G Said
- G Schifitto
- G Solders
- G Stoll
- GI Wolfe
- GJ Ebenezer
- I Schwartz
- II Gameren van
- J Bednarik
- J Prineas
- J-M Vallat
- JA Tracy
- JB Winer
- JC Stevens
- JD England
- JF Kurtzke
- JG McLeod
- JJ Devaux
- JL Berk
- JM Bilbao
- JM Schröder
- JM Vallat
- JP Sleater
- JR Perry
- JT Kissel
- JT Sladky
- JW Griffin
- K Doppler
- K Schweikert
- KK Amrami
- L Chia
- L Wang
- L Zhou
- M Deprez
- M Nishimura
- M Nolano
- M Nolano
- M Nolano
- M Pollock
- M Polydefkis
- MA Saporta
- MA Singer
- MI Myers
- MJ Hilz
- MP Collins
- MYL DeWit
- N Corvisier
- NC Notermans
- NH Antia
- NH Wadia
- O Garcia-Suarez
- P Flachenecker
- PJ Dyck
- PJ Dyck
- PJ Dyck
- PJ Dyck
- PJ Dyck
- PJ Dyck
- PJ Dyck
- PK Thomas
- R Dabby
- R Hughes
- R King
- R Lombardi
- R Ouvrier
- R Poburski
- RH Baloh
- RJ Barohn
- RJ Barohn
- S Jann
- SHB Hawke
- SI Mellgren
- SJ Oh
- SM Hall
- T Kanda
- V Provitera
- W Tackmann
- WB Matthews
- WMJ Bosboom
- WR Kennedy
- Y Harati
- Z Argov
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
- Author
- A Belkadi
- Aditi Kidambi
- Alexander P. Drew
- AM Cotton
- AP Drew
- ASD Saporta
- B Haines
- B Weckselblatt
- B-O Choi
- C Lin
- CJ Sakofsky
- CMB Carvalho
- D Pehlivan
- DA Kleinjan
- David Mowat
- DG Lupiáñez
- DJ Bunyan
- EA Jones
- F Zhang
- F Zhang
- Garth A. Nicholson
- GM Destefano
- Gopinath M. Subramanian
- GR Abecasis
- H Høyer
- H Høyer
- H Kurahashi
- H Li
- H Zhu
- Helen K. Young
- IG Huttner
- J Huang
- Jessica Qi
- JR Dixon
- JR Lupski
- KJ Livak
- L Feuk
- LJ Valentijn
- M Nakagawa
- M Onozawa
- M Schabhüttl
- M Spielmann
- MaJ Weterman
- Manoj P. Menezes
- Marina L. Kennerson
- Megan H. Brewer
- MH Brewer
- MH Brewer
- MH Maeda
- Michelle A. Farrar
- Monique M. Ryan
- MR Bowl
- N Matsunami
- P Raeymaekers
- PF Chance
- PI Patel
- PJ Ainsworth
- PJ Hastings
- PM Smallwood
- R Chaudhry
- R Redon
- R Østern
- Rabia Chaudhry
- Santhosh Girirajan
- ST Sherry
- Stephan Zuchner
- Stephen W. Reddel
- V Timmerman
- VV Ionasescu
- Y Okamoto
- Y Zhang
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
No full textGJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems
- Author
- A Abel
- A Basu
- A Clemence
- A Kunze
- A Wallraff
- AF Hahn
- AF Hahn
- AF Hahn
- AG Reaume
- AM Rossor
- ASD Saporta
- B Odermatt
- B Sutor
- B Teubner
- B Uhlenberg
- BM Altevogt
- BM Altevogt
- C Frisch
- C Fusco
- C Gonzaga-Jauregui
- C Lin
- C Meier
- C Neusch
- C Ressot
- C Siskind
- C Stancanelli
- Charles K. Abrams
- CJ Davis
- CK Abrams
- CK Abrams
- CK Abrams
- CK Abrams
- CK Abrams
- CL Stanislaw
- CO Hanemann
- CR Camara-Lemarroy
- CT Schrander-Stumpel
- D Kabzinska
- D Klein
- D Liang
- DB Parkinson
- DM Menichella
- DM Menichella
- DR Cox
- E Dahl
- E Dere
- EM Yiu
- EN Bonnaud-Toulze
- ET Mambetisaeva
- F Cao
- F Tabaraud
- FF Bukauskas
- FM Hisama
- G Anand
- G Karadima
- G Nicholson
- G Nicholson
- G Sohl
- GA Nicholson
- GH Kim
- GS Goldberg
- GS Goldberg
- GS Goldberg
- GS Liang
- H Houlden
- H Kawakami
- H Niessen
- H Niessen
- H Rouger
- H Takashima
- HJ Schelhaas
- HL Paulson
- HL Wang
- I Kobsar
- I Kobsar
- I Sargiannidou
- I Sargiannidou
- I Vorisek
- J Berciano
- J Bergoffen
- J Eiberger
- J Kassubek
- J Nagy
- J Senderek
- J Senderek
- J Srinivasan
- JE Rash
- JE Rash
- JE Rash
- JI Nagy
- JI Nagy
- JI Nagy
- JI Nagy
- JI Nagy
- JI Nagy
- JK VanSlyke
- JL Orthmann-Murphy
- JL Orthmann-Murphy
- JL Orthmann-Murphy
- JL Salzer
- JM Rosenstein
- JM Vallat
- K Beauvais
- K Boengler
- K Higashi
- K Pham
- K Sato
- KA Kleopa
- KA Kleopa
- KA Kleopa
- KA Kleopa
- KA Nave
- KJ Chandross
- KJ Chandross
- KJ Chandross
- KM Krajewski
- KP Giese
- KR Jessen
- KR Jessen
- L Flagiello
- L Li
- LC Barrio
- LJ Jeng
- LM Magnotti
- LM Magnotti
- M Ahn
- M Bahr
- M Bicego
- M Caramins
- M Chanson
- M Dezawa
- M Freidin
- M Halbrich
- M Li
- M Maglione
- M Maurer
- M Nakagawa
- M Panas
- M Ruiz-Meana
- M Theis
- MA Filippov
- MA Saporta
- ME Shy
- MG Kozoriz
- MJ Lee
- Mona Freidin
- MR Murru
- N Birouk
- N Bondurand
- N Hattori
- N Kamasawa
- N Vavlitou
- O Combarros
- O Dubourg
- O Tress
- P Anzini
- P Bouche
- P Seeman
- PC Tsai
- PE Martin
- PJ Ainsworth
- PJ Arthur-Farraj
- R Basri
- R Bruzzone
- R Bruzzone
- R Martini
- R Schulz
- R Schulz
- RA Taylor
- RJ Balice-Gordon
- RJ Gorlin
- RM Dijkhuizen
- S Bort
- S Oh
- S Sancho
- SE Lutz
- SK Wasseff
- SL Carroll
- SL Fowler
- SM Deschenes
- SM Murphy
- SS Scherer
- SS Scherer
- SW Yum
- T Konishi
- T Loddenkemper
- T Rosser
- T Stojkovic
- T Yoshimura
- T Zambelis
- TW White
- V Ionasescu
- VV Ionasescu
- W Marques Jr
- W Matsuyama
- W Tang
- W Tetzlaff
- WA Paznekas
- WF Blakemore
- X Li
- X Li
- Y Huang
- Y Omori
- Z Sahenk
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
