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Research | | Open
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Sacha Ferdinandusse
- , Kirsty McWalter
- , Heleen te Brinke
- , Lodewijk IJlst
- , Petra M. Mooijer
- , Jos P. N. Ruiter
- , Alida E. M. van Lint
- , Mia Pras-Raves
- , Eric Wever
- , Francisca Millan
- , Maria J. Guillen Sacoto
- , Amber Begtrup
- , Mark Tarnopolsky
- , Lauren Brady
- , Roger L. Ladda
- , Susan L. Sell
- , Catherine B. Nowak
- , Jessica Douglas
- , Cuixia Tian
- , Elizabeth Ulm
- , Seth Perlman
- , Arlene V. Drack
- , Karen Chong
- , Nicole Martin
- , Jennifer Brault
- , Elly Brokamp
- , Camilo Toro
- , William A. Gahl
- , Ellen F. Macnamara
- , Lynne Wolfe
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Quinten Waisfisz
- , Petra J. G. Zwijnenburg
- , Alban Ziegler
- , Magalie Barth
- , Rosemarie Smith
- , Sara Ellingwood
- , Deborah Gaebler-Spira
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , Antoine H. C. van Kampen
- , Ronald J. A. Wanders
- , Hans R. Waterham
- , David Cassiman
- & Frédéric M. Vaz
-
Research |
Assessing non-Mendelian inheritance in inherited axonopathies
- Dana M. Bis-Brewer
- , Ziv Gan-Or
- , Patrick Sleiman
- , Aixa Rodriguez
- , Alexa Bacha
- , Ashley Kosikowski
- , Beth Wood
- , Brett McCray
- , Brianna Blume
- , Carly Siskind
- , Charlotte Sumner
- , Daniela Calabrese
- , David Walk
- , Dragan Vujovic
- , Eun Park
- , Francesco Muntoni
- , Gabrielle Donlevy
- , Gyula Acsadi
- , John Day
- , Joshua Burns
- , Jun Li
- , Karen Krajewski
- , Kate Eichinger
- , Kayla Cornett
- , Krista Mullen
- , Laura Perez
- , Laurie Gutmann
- , Maria Barrett
- , Mario Saporta
- , Mariola Skorupinska
- , Natalie Grant
- , Paula Bray
- , Reza Seyedsadjadi
- , Riccardo Zuccarino
- , Richard Finkel
- , Richard Lewis
- , Sabrina Yum
- , Sarah Hilbert
- , Simone Thomas
- , Steffen Behrens-Spraggins
- , Tara Jones
- , Tiffany Grider
- , Tim Estilow
- , Vera Fridman
- , Mary M. Reilly
- , Michael E. Shy
- , Chelsea J. Bacon
- , Shawna M. E. Feely
- , Alexander M. Rossor
- , David N. Herrmann
- , Hakon Hakonarson
- , Sarah Fazal
- , Steve Courel
- , Vivian Cintra
- , Feifei Tao
- , Mehrdad A. Estiar
- , Mark Tarnopolsky
- , Kym M. Boycott
- , Grace Yoon
- , Oksana Suchowersky
- , Nicolas Dupré
- , Andrew Cheng
- , Thomas E. Lloyd
- , Guy Rouleau
- , Rebecca Schüle
- & Stephan Züchner
-
Research |
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
- Kelly Schoch
- , Cecilia Esteves
- , Anna Bican
- , Rebecca Spillmann
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Nicole Walley
- , Liliana Fernandez
- , Jennefer N. Kohler
- , Devon Bonner
- , Chloe Reuter
- , Nicholas Stong
- , John J. Mulvihill
- , Donna Novacic
- , Lynne Wolfe
- , Ayat Abdelbaki
- , Camilo Toro
- , Cyndi Tifft
- , May Malicdan
- , William Gahl
- , Pengfei Liu
- , John Newman
- , David B. Goldstein
- , Jason Hom
- , Jacinda Sampson
- , Matthew T. Wheeler
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Joy Cogan
- , Jonathan A. Bernstein
- , David R. Adams
- , Alexa T. McCray
- & Vandana Shashi
-
Amendments and Corrections |
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
- Andrea Cortese
- , Yi Zhu
- , Adriana P. Rebelo
- , Sara Negri
- , Steve Courel
- , Lisa Abreu
- , Chelsea J. Bacon
- , Yunhong Bai
- , Dana M. Bis-Brewer
- , Enrico Bugiardini
- , Elena Buglo
- , Matt C. Danzi
- , Shawna M. E. Feely
- , Alkyoni Athanasiou-Fragkouli
- , Nourelhoda A. Haridy
- , Aixa Rodriguez
- , Alexa Bacha
- , Ashley Kosikowski
- , Beth Wood
- , Brett McCray
- , Brianna Blume
- , Carly Siskind
- , Charlotte Sumner
- , Daniela Calabrese
- , David Walk
- , Dragan Vujovic
- , Eun Park
- , Francesco Muntoni
- , Gabrielle Donlevy
- , Gyula Acsadi
- , John Day
- , Joshua Burns
- , Jun Li
- , Karen Krajewski
- , Kate Eichinger
- , Kayla Cornett
- , Krista Mullen
- , Perez Quiros Laura
- , Laurie Gutmann
- , Maria Barrett
- , Mario Saporta
- , Mariola Skorupinska
- , Natalie Grant
- , Paula Bray
- , Reza Seyedsadjadi
- , Riccardo Zuccarino
- , Richard Finkel
- , Richard Lewis
- , Sabrina Yum
- , Sarah Hilbert
- , Simone Thomas
- , Steffen Behrens-Spraggins
- , Tara Jones
- , Thomas Lloyd
- , Tiffany Grider
- , Tim Estilow
- , Vera Fridman
- , Rosario Isasi
- , Alaa Khan
- , Matilde Laurà
- , Stefania Magri
- , Menelaos Pipis
- , Chiara Pisciotta
- , Eric Powell
- , Alexander M. Rossor
- , Paola Saveri
- , Janet E. Sowden
- , Stefano Tozza
- , Jana Vandrovcova
- , Julia Dallman
- , Elena Grignani
- , Enrico Marchioni
- , Steven S. Scherer
- , Beisha Tang
- , Zhiqiang Lin
- , Abdullah Al-Ajmi
- , Rebecca Schüle
- , Matthis Synofzik
- , Thierry Maisonobe
- , Tanya Stojkovic
- , Michaela Auer-Grumbach
- , Mohamed A. Abdelhamed
- , Sherifa A. Hamed
- , Ruxu Zhang
- , Fiore Manganelli
- , Lucio Santoro
- , Franco Taroni
- , Davide Pareyson
- , Henry Houlden
- , David N. Herrmann
- , Mary M. Reilly
- , Michael E. Shy
- , R. Grace Zhai
- & Stephan Zuchner
-
Research | | Open
-
Amendments and Corrections |
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
- Sali M. K. Farhan
- , Daniel P. Howrigan
- , Liam E. Abbott
- , Joseph R. Klim
- , Simon D. Topp
- , Andrea E. Byrnes
- , Claire Churchhouse
- , Hemali Phatnani
- , Bradley N. Smith
- , Evadnie Rampersaud
- , Gang Wu
- , Joanne Wuu
- , Aleksey Shatunov
- , Alfredo Iacoangeli
- , Ahmad Al Khleifat
- , Daniel A. Mordes
- , Sulagna Ghosh
- , Kevin Eggan
- , Rosa Rademakers
- , Jacob L. McCauley
- , Rebecca Schüle
- , Stephan Züchner
- , Michael Benatar
- , J. Paul Taylor
- , Michael Nalls
- , Marc Gotkine
- , Pamela J. Shaw
- , Karen E. Morrison
- , Ammar Al-Chalabi
- , Bryan Traynor
- , Christopher E. Shaw
- , David B. Goldstein
- , Matthew B. Harms
- , Mark J. Daly
- & Benjamin M. Neale
-
Amendments and Corrections |
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
- Andrea Cortese
- , Roberto Simone
- , Roisin Sullivan
- , Jana Vandrovcova
- , Huma Tariq
- , Wai Yan Yau
- , Jack Humphrey
- , Zane Jaunmuktane
- , Prasanth Sivakumar
- , James Polke
- , Muhammad Ilyas
- , Eloise Tribollet
- , Pedro J. Tomaselli
- , Grazia Devigili
- , Ilaria Callegari
- , Maurizio Versino
- , Vincenzo Salpietro
- , Stephanie Efthymiou
- , Diego Kaski
- , Nick W. Wood
- , Nadja S. Andrade
- , Elena Buglo
- , Adriana Rebelo
- , Alexander M. Rossor
- , Adolfo Bronstein
- , Pietro Fratta
- , Wilson J. Marques
- , Stephan Züchner
- , Mary M. Reilly
- & Henry Houlden
-
Comments and Opinion |
-
Research |
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
- Andrea Cortese
- , Yi Zhu
- , Adriana P. Rebelo
- , Sara Negri
- , Steve Courel
- , Lisa Abreu
- , Chelsea J. Bacon
- , Yunhong Bai
- , Dana M. Bis-Brewer
- , Enrico Bugiardini
- , Elena Buglo
- , Matt C. Danzi
- , Shawna M. E. Feely
- , Alkyoni Athanasiou-Fragkouli
- , Nourelhoda A. Haridy
- , Aixa Rodriguez
- , Alexa Bacha
- , Ashley Kosikowski
- , Beth Wood
- , Brett McCray
- , Brianna Blume
- , Carly Siskind
- , Charlotte Sumner
- , Daniela Calabrese
- , David Walk
- , Dragan Vujovic
- , Eun Park
- , Francesco Muntoni
- , Gabrielle Donlevy
- , Gyula Acsadi
- , John Day
- , Joshua Burns
- , Jun Li
- , Karen Krajewski
- , Kate Eichinger
- , Kayla Cornett
- , Krista Mullen
- , Perez Quiros Laura
- , Laurie Gutmann
- , Maria Barrett
- , Mario Saporta
- , Mariola Skorupinska
- , Natalie Grant
- , Paula Bray
- , Reza Seyedsadjadi
- , Riccardo Zuccarino
- , Richard Finkel
- , Richard Lewis
- , Rosemary R. Shy
- , Sabrina Yum
- , Sarah Hilbert
- , Simone Thomas
- , Steffen Behrens-Spraggins
- , Tara Jones
- , Thomas Lloyd
- , Tiffany Grider
- , Tim Estilow
- , Vera Fridman
- , Rosario Isasi
- , Alaa Khan
- , Matilde Laurà
- , Stefania Magri
- , Menelaos Pipis
- , Chiara Pisciotta
- , Eric Powell
- , Alexander M. Rossor
- , Paola Saveri
- , Janet E. Sowden
- , Stefano Tozza
- , Jana Vandrovcova
- , Julia Dallman
- , Elena Grignani
- , Enrico Marchioni
- , Steven S. Scherer
- , Beisha Tang
- , Zhiqiang Lin
- , Abdullah Al-Ajmi
- , Rebecca Schüle
- , Matthis Synofzik
- , Thierry Maisonobe
- , Tanya Stojkovic
- , Michaela Auer-Grumbach
- , Mohamed A. Abdelhamed
- , Sherifa A. Hamed
- , Ruxu Zhang
- , Fiore Manganelli
- , Lucio Santoro
- , Franco Taroni
- , Davide Pareyson
- , Henry Houlden
- , David N. Herrmann
- , Mary M. Reilly
- , Michael E. Shy
- , R. Grace Zhai
- & Stephan Zuchner
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Research |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
- Magdalena Zimoń
- , Jonathan Baets
- , Leonardo Almeida-Souza
- , Els De Vriendt
- , Jelena Nikodinovic
- , Yesim Parman
- , Esra Battaloǧlu
- , Zeliha Matur
- , Velina Guergueltcheva
- , Ivailo Tournev
- , Michaela Auer-Grumbach
- , Peter De Rijk
- , Britt-Sabina Petersen
- , Thomas Müller
- , Erik Fransen
- , Philip Van Damme
- , Wolfgang N Löscher
- , Nina Barišić
- , Zoran Mitrovic
- , Stefano C Previtali
- , Haluk Topaloǧlu
- , Günther Bernert
- , Ana Beleza-Meireles
- , Slobodanka Todorovic
- , Dusanka Savic-Pavicevic
- , Boryana Ishpekova
- , Silvia Lechner
- , Kristien Peeters
- , Tinne Ooms
- , Angelika F Hahn
- , Stephan Züchner
- , Vincent Timmerman
- , Patrick Van Dijck
- , Vedrana Milic Rasic
- , Andreas R Janecke
- , Peter De Jonghe
- & Albena Jordanova
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Research |
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Research |
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News and Views |
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Reviews |
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Research |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
- Stephan Züchner
- , Irina V Mersiyanova
- , Maria Muglia
- , Nisrine Bissar-Tadmouri
- , Julie Rochelle
- , Elena L Dadali
- , Mario Zappia
- , Eva Nelis
- , Alessandra Patitucci
- , Jan Senderek
- , Yesim Parman
- , Oleg Evgrafov
- , Peter De Jonghe
- , Yuji Takahashi
- , Shoij Tsuji
- , Margaret A Pericak-Vance
- , Aldo Quattrone
- , Esra Battologlu
- , Alexander V Polyakov
- , Vincent Timmerman
- , J Michael Schröder
- & Jeffery M Vance
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Research |
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
- Sali M. K. Farhan
- , Daniel P. Howrigan
- , Liam E. Abbott
- , Joseph R. Klim
- , Simon D. Topp
- , Andrea E. Byrnes
- , Claire Churchhouse
- , Hemali Phatnani
- , Bradley N. Smith
- , Evadnie Rampersaud
- , Gang Wu
- , Joanne Wuu
- , Aleksey Shatunov
- , Alfredo Iacoangeli
- , Ahmad Al Khleifat
- , Daniel A. Mordes
- , Sulagna Ghosh
- , Kevin Eggan
- , Rosa Rademakers
- , Jacob L. McCauley
- , Rebecca Schüle
- , Stephan Züchner
- , Michael Benatar
- , J. Paul Taylor
- , Michael Nalls
- , Marc Gotkine
- , Pamela J. Shaw
- , Karen E. Morrison
- , Ammar Al-Chalabi
- , Bryan Traynor
- , Christopher E. Shaw
- , David B. Goldstein
- , Matthew B. Harms
- , Mark J. Daly
- & Benjamin M. Neale
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Research | | Open
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
- Matias Wagner
- , Daniel P. S. Osborn
- , Ina Gehweiler
- , Maike Nagel
- , Ulrike Ulmer
- , Somayeh Bakhtiari
- , Rim Amouri
- , Reza Boostani
- , Faycal Hentati
- , Maryam M. Hockley
- , Benedikt Hölbling
- , Thomas Schwarzmayr
- , Ehsan Ghayoor Karimiani
- , Christoph Kernstock
- , Reza Maroofian
- , Wolfgang Müller-Felber
- , Ege Ozkan
- , Sergio Padilla-Lopez
- , Selina Reich
- , Jennifer Reichbauer
- , Hossein Darvish
- , Neda Shahmohammadibeni
- , Abbas Tafakhori
- , Katharina Vill
- , Stephan Zuchner
- , Michael C. Kruer
- , Juliane Winkelmann
- , Yalda Jamshidi
- & Rebecca Schüle
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Research |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
- Andrea Cortese
- , Roberto Simone
- , Roisin Sullivan
- , Jana Vandrovcova
- , Huma Tariq
- , Wai Yan Yau
- , Jack Humphrey
- , Zane Jaunmuktane
- , Prasanth Sivakumar
- , James Polke
- , Muhammad Ilyas
- , Eloise Tribollet
- , Pedro J. Tomaselli
- , Grazia Devigili
- , Ilaria Callegari
- , Maurizio Versino
- , Vincenzo Salpietro
- , Stephanie Efthymiou
- , Diego Kaski
- , Nick W. Wood
- , Nadja S. Andrade
- , Elena Buglo
- , Adriana Rebelo
- , Alexander M. Rossor
- , Adolfo Bronstein
- , Pietro Fratta
- , Wilson J. Marques
- , Stephan Züchner
- , Mary M. Reilly
- & Henry Houlden
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Research | | Open
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Research | | Open
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks
- Melanie Meister-Broekema
- , Rebecca Freilich
- , Chandhuru Jagadeesan
- , Jennifer N. Rauch
- , Rocio Bengoechea
- , William W. Motley
- , E. F. Elsiena Kuiper
- , Melania Minoia
- , Gabriel V. Furtado
- , Maria A. W. H. van Waarde
- , Shawn J. Bird
- , Adriana Rebelo
- , Stephan Zuchner
- , Peter Pytel
- , Steven S. Scherer
- , Federica F. Morelli
- , Serena Carra
- , Conrad C. Weihl
- , Steven Bergink
- , Jason E. Gestwicki
- & Harm H. Kampinga
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Research |
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
- Matthis Synofzik
- , Katherine L. Helbig
- , Florian Harmuth
- , Tine Deconinck
- , Pranoot Tanpaiboon
- , Bo Sun
- , Wenting Guo
- , Ruiwu Wang
- , Erika Palmaer
- , Sha Tang
- , G. Bradley Schaefer
- , Janina Gburek-Augustat
- , Stephan Züchner
- , Ingeborg Krägeloh-Mann
- , Jonathan Baets
- , Peter de Jonghe
- , Peter Bauer
- , S. R. Wayne Chen
- , Ludger Schöls
- & Rebecca Schüle
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Research |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
- Alexander J Abrams
- , Robert B Hufnagel
- , Adriana Rebelo
- , Claudia Zanna
- , Neville Patel
- , Michael A Gonzalez
- , Ion J Campeanu
- , Laurie B Griffin
- , Saskia Groenewald
- , Alleene V Strickland
- , Feifei Tao
- , Fiorella Speziani
- , Lisa Abreu
- , Rebecca Schüle
- , Leonardo Caporali
- , Chiara La Morgia
- , Alessandra Maresca
- , Rocco Liguori
- , Raffaele Lodi
- , Zubair M Ahmed
- , Kristen L Sund
- , Xinjian Wang
- , Laura A Krueger
- , Yanyan Peng
- , Carlos E Prada
- , Cynthia A Prows
- , Elizabeth K Schorry
- , Anthony Antonellis
- , Holly H Zimmerman
- , Omar A Abdul-Rahman
- , Yaping Yang
- , Susan M Downes
- , Jeffery Prince
- , Flavia Fontanesi
- , Antonio Barrientos
- , Andrea H Németh
- , Valerio Carelli
- , Taosheng Huang
- , Stephan Zuchner
- & Julia E Dallman
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Research |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
- Steffen Syrbe
- , Ulrike B S Hedrich
- , Erik Riesch
- , Tania Djémié
- , Stephan Müller
- , Rikke S Møller
- , Bridget Maher
- , Laura Hernandez-Hernandez
- , Matthis Synofzik
- , Hande S Caglayan
- , Mutluay Arslan
- , José M Serratosa
- , Michael Nothnagel
- , Patrick May
- , Roland Krause
- , Heidrun Löffler
- , Katja Detert
- , Thomas Dorn
- , Heinrich Vogt
- , Günter Krämer
- , Ludger Schöls
- , Primus E Mullis
- , Tarja Linnankivi
- , Anna-Elina Lehesjoki
- , Katalin Sterbova
- , Dana C Craiu
- , Dorota Hoffman-Zacharska
- , Christian M Korff
- , Yvonne G Weber
- , Maja Steinlin
- , Sabina Gallati
- , Astrid Bertsche
- , Matthias K Bernhard
- , Andreas Merkenschlager
- , Wieland Kiess
- , Rudi Balling
- , Nina Barisic
- , Stéphanie Baulac
- , Hande S Caglayan
- , Dana C Craiu
- , Peter De Jonghe
- , Christel Depienne
- , Padhraig Gormley
- , Renzo Guerrini
- , Ingo Helbig
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Karl Martin Klein
- , Bobby P C Koeleman
- , Vladimir Komarek
- , Roland Krause
- , Eric LeGuern
- , Anna-Elina Lehesjoki
- , Johannes R Lemke
- , Holger Lerche
- , Carla Marini
- , Patrick May
- , Rikke S Møller
- , Hiltrud Muhle
- , Aarno Palotie
- , Deb Pal
- , Felix Rosenow
- , Kaja Selmer
- , José M Serratosa
- , Sanjay M Sisodiya
- , Ulrich Stephani
- , Katalin Sterbova
- , Pasquale Striano
- , Arvid Suls
- , Tiina Talvik
- , Sarah von Spiczak
- , Yvonne G Weber
- , Sarah Weckhuysen
- , Federico Zara
- , Michael Gonzalez
- , Stephan Züchner
- , Aarno Palotie
- , Arvid Suls
- , Peter De Jonghe
- , Ingo Helbig
- , Saskia Biskup
- , Markus Wolff
- , Snezana Maljevic
- , Rebecca Schüle
- , Sanjay M Sisodiya
- , Sarah Weckhuysen
- , Holger Lerche
- & Johannes R Lemke
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