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Janel Johnson

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Janel Johnson; Andre Megarbane; Francesco Muntoni; Amelie Pandraud; Mary M Reilly; Javier Simón-Sánchez; Yevgeniya Abramzon; Sampath Arepalli; Peter Clayton; A Reghan Foley; J Raphael Gibbs; Dena G Hernandez; Henry Houlden; J Andoni Urtizberea; Andrew B Singleton
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Paola Giunti; D A Hilton; Henry Houlden; Janel Johnson; Tamas Revesz; Mary B Davis; Christopher Gardner-Thorpe; Paul Worth; Nicholas W Wood
Spinocerebellar ataxia type 11.
Janel Johnson; J Raphael Gibbs; Lionel Van Maldergem; Henry Houlden; Andrew Singleton
Exome sequencing in Brown-Vialetto-van Laere syndrome.

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All Publications

2012: Janel Johnson; Andre Megarbane; Francesco Muntoni; Amelie Pandraud; Mary M Reilly; Javier Simón-Sánchez; Yevgeniya Abramzon; Sampath Arepalli; Peter Clayton; A Reghan Foley; J Raphael Gibbs; Dena G Hernandez; Henry Houlden; J Andoni Urtizberea; Andrew B Singleton
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain : a journal of neurology 2012;135(Pt 9):2875-82.
2012: Paola Giunti; D A Hilton; Henry Houlden; Janel Johnson; Tamas Revesz; Mary B Davis; Christopher Gardner-Thorpe; Paul Worth; Nicholas W Wood
Spinocerebellar ataxia type 11.
Handbook of clinical neurology 2012;103():521-34.
2010: Janel Johnson; J Raphael Gibbs; Lionel Van Maldergem; Henry Houlden; Andrew Singleton
Exome sequencing in Brown-Vialetto-van Laere syndrome.
American journal of human genetics 2010;87(4):567-9; author reply 569-70.
2010: Bryan Joseph Traynor; Michael Nalls; Shiao-Lin Lai; Raphael J Gibbs; Jennifer C Schymick; Sampath Arepalli; Dena Hernandez; Marcel P van der Brug; Janel Johnson; Allissa Dillman; Mark Cookson; Cristina Moglia; Andrea Calvo; Gabriella Restagno; Gabriele Mora; Adriano Chio
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(27):12335-8.
2008: Janel Johnson; Nicholas W Wood; Paola Giunti; Henry Houlden
Clinical and genetic analysis of spinocerebellar ataxia type 11.
Cerebellum (London, England) 2008;7(2):159-64.
2007: Henry Houlden; Janel Johnson; Christopher Gardner-Thorpe; Tammaryn Lashley; Dena Hernandez; Paul Worth; Andrew Singleton; David A Hilton; Janice Holton; Tamas Revesz; Mary B Davis; Paola Giunti; Paolo Giunti; Nicholas W Wood
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Nature genetics 2007;39(12):1434-6.
2007: Janel Johnson; Coro Paisan-Ruiz; Grisel Lopez; Cynthia Crews; Angela Britton; Roneil Malkani; E Whitney Evans; Aideen McInerney-Leo; Shushant Jain; Robert L Nussbaum; Kelly D Foote; Ronald J Mandel; Anthony Crawley; Sharon Reimsnider; Hubert H Fernandez; Michael S Okun; Katrina Gwinn-Hardy; Andrew Singleton
Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
Neuro-degenerative diseases 2007;4(5):386-91.
2007: Hasmet Hanagasi; Andrew J Lees; Janel Johnson; Andrew Singleton; Murat Emre
Smoking-responsive juvenile-onset Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2007;22(1):115-9.
2005: Jordi Clarimon; Janel Johnson; Ruth Djaldetti; Dena Hernandez; Nobutaka Hattori; Hava Sroka; Yael Barhom; Andrew Singleton
Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
Movement disorders : official journal of the Movement Disorder Society 2005;20(7):887-90.
2005: Naheed L Khan; Wagner Horta; Louise H Eunson; Elizabeth Graham; Janel Johnson; Shannon Chang; Mary Davis; Andrew Singleton; Nicholas W Wood; Andrew J Lees
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.
Movement disorders : official journal of the Movement Disorder Society 2005;20(4):479-84.
2005: Dena G Hernandez; Coro Paisan-Ruiz; Aideen McInerney-Leo; Shushant Jain; Andreas Meyer-Lindenberg; E Whitney Evans; Karen Faith Berman; Janel Johnson; Georg Auburger; Alejandro A Schäffer; Grisel J Lopez; Robert L Nussbaum; Andrew Singleton
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
Annals of neurology 2005;57(3):453-6.
2005: Jordi Clarimon; Janel Johnson; Okan Dogu; Wagner Horta; Naheed Khan; Andrew J Lees; John Hardy; Andrew Singleton
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;133B(1):120-3.
2004: Ekaterina Rogaeva; Janel Johnson; Anthony E Lang; Cindy Gulick; Katrina Gwinn-Hardy; Toshitaka Kawarai; Christine Sato; Angharad Morgan; John Werner; Robert L Nussbaum; Agnes Petit; Michael S Okun; Aideen McInerney; Ronald Mandel; Justus L Groen; Hubert H Fernandez; Ronald B Postuma; Kelly D Foote; Shabnam Salehi-Rad; Yan Liang; Sharon Reimsnider; Anurag Tandon; John Hardy; Peter St George-Hyslop; Andrew Singleton
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Archives of neurology 2004;61(12):1898-904.
2004: Coro Paisan-Ruiz; Shushant Jain; E Whitney Evans; William P Gilks; Javier Simón; Marcel van der Brug; Adolfo López de Munain; Silvia Aparicio; Angel Martínez Gil; Naheed Khan; Janel Johnson; Javier Ruiz Martinez; David Nicholl; Itxaso Marti Carrera; Amets Saénz Pena; Rohan de Silva; Andrew J Lees; José Félix Martí-Massó; Jordi Pérez-Tur; Nicholas W Wood; Andrew Singleton
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.
Neuron 2004;44(4):595-600.
2004: Janel Johnson; Stephen Hague; Melissa Hanson; A Gibson; K E Wilson; E Whitney Evans; Amanda Adam Singleton; Aideen McInerney-Leo; Robert L Nussbaum; Dena G Hernandez; Marisol Gallardo; Ian G McKeith; David J Burn; M Ryu; O Hellstrom; Bernard Ravina; Johanna Eerola; Robert H Perry; E Jaros; Pentti J Tienari; Roberto Weiser; Katrina Gwinn-Hardy; Christopher M Morris; John Hardy; Andrew Singleton
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Neurology 2004;63(3):554-6.
2004: Janel Johnson; Jovanka Ostojic; Lars Lannfelt; Anna Glaser; Hans Basun; Ekaterina Rogaeva; Toshitaka Kawarai; Amalia Bruni; Peter St George-Hyslop; Alison Goate; Pau Pastor; Sumi Chakraverty; Joanne Norton; John C Morris; John Hardy; Andrew Singleton
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
Neuroscience letters 2004;363(2):99-101.
2003: Andrew B Singleton; Matthew J Farrer; Janel Johnson; Andrew Singleton; Stephen Hague; Jennifer Kachergus; Mary Hulihan; Terhi Peuralinna; A Dutra; Robert L Nussbaum; Sarah J Lincoln; Anthony Crawley; Melissa Hanson; Demetrius M Maraganore; Charles H Adler; Mark Cookson; MD Muenter; Melisa J Baptista; D Miller; J Blancato; John Hardy; Katrina Gwinn-Hardy
alpha-Synuclein locus triplication causes Parkinson's disease.
Science (New York, N.Y.) 2003;302(5646):841.
2003: Johanna Eerola; D Hernandez; Jyrki Launes; Olli Hellström; Stephen Hague; Cindy Gulick; Janel Johnson; Terhi Peuralinna; John Hardy; Pentti J Tienari; Andrew Singleton
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.
Neurology 2003;61(7):1000-2.
2003: Stephen Hague; Ekaterina Rogaeva; Dena Hernandez; Cindy Gulick; Andrew Singleton; Melissa Hanson; Janel Johnson; Roberto Weiser; Marisol Gallardo; Bernard Ravina; Katrina Gwinn-Hardy; Anthony Crawley; Peter St George-Hyslop; Anthony E Lang; Peter Heutink; Vincenzo Bonifati; John Hardy; Andrew Singleton
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Annals of neurology 2003;54(2):271-4.