Works by Johnson, Janel

Results: 25

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.

Published in:

Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245

By:

Bott, Laura C.;
Forouhan, Mitra;
Lieto, Maria;
Sala, Ambre J.;
Ellerington, Ruth;
Johnson, Janel O.;
Speciale, Alfina A.;
Criscuolo, Chiara;
Filla, Alessandro;
Chitayat, David;
Alkhunaizi, Ebba;
Shannon, Patrick;
Nemeth, Andrea H.;
Angelucci, Francesco;
Wooi Fang Lim;
Striano, Pasquale;
Zara, Federico;
Helbig, Ingo;
Muona, Mikko;
Courage, Carolina

Publication type:

Article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Published in:

JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598

By:

Johnson, Janel O.;
Chia, Ruth;
Miller, Danny E.;
Li, Rachel;
Kumaran, Ravindran;
Abramzon, Yevgeniya;
Alahmady, Nada;
Renton, Alan E.;
Topp, Simon D.;
Gibbs, J. Raphael;
Cookson, Mark R.;
Sabir, Marya S.;
Dalgard, Clifton L.;
Troakes, Claire;
Jones, Ashley R.;
Shatunov, Aleksey;
Iacoangeli, Alfredo;
Al Khleifat, Ahmad;
Ticozzi, Nicola;
Silani, Vincenzo

Publication type:

Article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Published in:

JAMA Neurology, 2015, v. 72, n. 5, p. 561, doi. 10.1001/jamaneurol.2014.4769

By:

Rinaldi, Carlo;
Schmidt, Thomas;
Situ, Alan J.;
Johnson, Janel O.;
Lee, Philip R.;
Chen, Ke-lian;
Bott, Laura C.;
Fadó, Rut;
Harmison, George H.;
Parodi, Sara;
Grunseich, Christopher;
Renvoisé, Benoît;
Biesecker, Leslie G.;
De Michele, Giuseppe;
Santorelli, Filippo M.;
Filla, Alessandro;
Stevanin, Giovanni;
Dürr, Alexandra;
Brice, Alexis;
Casals, Núria

Publication type:

Article

A Genome-Wide Association Study of Myasthenia Gravis.

Published in:

JAMA Neurology, 2015, v. 72, n. 4, p. 396, doi. 10.1001/jamaneurol.2014.4103

By:

Renton, Alan E.;
Pliner, Hannah A.;
Provenzano, Carlo;
Evoli, Amelia;
Ricciardi, Roberta;
Nalls, Michael A.;
Marangi, Giuseppe;
Abramzon, Yevgeniya;
Arepalli, Sampath;
Sean Chong;
Hernandez, Dena G.;
Johnson, Janel O.;
Bartoccioni, Emanuela;
Scuderi, Flavia;
Maestri, Michelangelo;
Gibbs, J. Raphael;
Errichiello, Edoardo;
Chiò, Adriano;
Restagno, Gabriella;
Sabatelli, Mario

Publication type:

Article

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Published in:

Annals of Neurology, 2005, v. 57, n. 3, p. 453

By:

Dena G. Hernandez;
Coro Paisán‐Ruíz;
Aideen McInerney‐Leo;
Shushant Jain;
Andreas Meyer‐Lindenberg;
E. Whitney Evans;
Karen F. Berman;
Janel Johnson;
Georg Auburger;
Alejandro A. Schäffer;
Grisel J. Lopez;
Robert L. Nussbaum;
Andrew B. Singleton

Publication type:

Article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Published in:

Annals of Neurology, 2003, v. 54, n. 2, p. 271

By:

Stephen Hague;
Ekaterina Rogaeva;
Dena Hernandez;
Cindy Gulick;
Amanda Singleton;
Melissa Hanson;
Janel Johnson;
Roberto Weiser;
Marisol Gallardo;
Bernard Ravina;
Katrina Gwinn-Hardy;
Anthony Crawley;
Peter H. St. George-Hyslop;
Anthony E. Lang;
Peter Heutink;
Vincenzo Bonifati;
John Hardy;
Andrew Singleton

Publication type:

Article

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Published in:

Movement Disorders, 2015, v. 30, n. 2, p. 262, doi. 10.1002/mds.26059

By:

Johnson, Janel O.;
Stevanin, Giovanni;
van de Leemput, Joyce;
Hernandez, Dena G.;
Arepalli, Sampath;
Forlani, Sylvie;
Zonozi, Reza;
Gibbs, J. Raphael;
Brice, Alexis;
Durr, Alexandra;
Singleton, Andrew B.

Publication type:

Article

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Published in:

2008

By:

Houlden, Henry;
Johnson, Janel;
Gardner-Thorpe, Christopher;
Lashley, Tammaryn;
Hernandez, Dena;
Worth, Paul;
Singleton, Andrew B.;
Hilton, David A.;
Holton, Janice;
Revesz, Tamas;
Davis, Mary B.;
Giunti, Paolo;
Wood, Nicholas W.

Publication type:

Correction Notice

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Published in:

Nature Genetics, 2007, v. 39, n. 12, p. 1434, doi. 10.1038/ng.2007.43

By:

Houlden, Henry;
Johnson, Janel;
Gardner-Thorpe, Christopher;
Lashley, Tammaryn;
Hernandez, Dena;
Worth, Paul;
Singleton, Andrew B.;
Hilton, David A.;
Holton, Janice;
Revesz, Tamas;
Davis, Mary B.;
Giunti, Paolo;
Wood, Nicholas W.

Publication type:

Article

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e311, doi. 10.1093/brain/awu265

By:

Johnson, Janel O.;
Glynn, Shannon M.;
Gibbs, J. Raphael;
Nalls, Mike A.;
Sabatelli, Mario;
Restagno, Gabriella;
Drory, Vivian E.;
Chiò, Adriano;
Rogaeva, Ekaterina;
Traynor, Bryan J.

Publication type:

Article

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2875, doi. 10.1093/brain/aws161

By:

Johnson, Janel O.;
Gibbs, J. Raphael;
Megarbane, Andre;
Urtizberea, J. Andoni;
Hernandez, Dena G.;
Foley, A. Reghan;
Arepalli, Sampath;
Pandraud, Amelie;
Simón-Sánchez, Javier;
Clayton, Peter;
Reilly, Mary M.;
Muntoni, Francesco;
Abramzon, Yevgeniya;
Houlden, Henry;
Singleton, Andrew B.

Publication type:

Article

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

Published in:

2011

By:

Gwinn K;
Devine MJ;
Jin LW;
Johnson J;
Bird T;
Muenter M;
Waters C;
Adler CH;
Caselli R;
Houlden H;
Lopez G;
Singleton A;
Hardy J;
Gwinn, Katrina;
Devine, Michael J;
Jin, Lee-Way;
Johnson, Janel;
Bird, Thomas;
Muenter, Manfred;
Waters, Cheryl

Publication type:

Case Study

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

Published in:

Movement Disorders, 2011, v. 26, n. 11, p. 2134, doi. 10.1002/mds.23776

By:

Gwinn, Katrina;
Devine, Michael J.;
Jin, Lee-Way;
Johnson, Janel;
Bird, Thomas;
Muenter, Manfred;
Waters, Cheryl;
Adler, Charles H.;
Caselli, Richard;
Houlden, Henry;
Lopez, Grisel;
Singleton, Amanda;
Hardy, John;
Singleton, Andrew

Publication type:

Article

Smoking-responsive juvenile-onset Parkinsonism.

Published in:

2007

By:

Hanagasi, Hasmet Ayhan;
Lees, Andrew;
Johnson, Janel O.;
Singleton, Andrew;
Emre, Murat

Publication type:

journal article

Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.

Published in:

2005

By:

Clarimon, Jordi;
Johnson, Janel;
Djaldetti, Ruth;
Hernandez, Dena;
Hattori, Nobutaka;
Sroka, Hava;
Barhom, Yael;
Singleton, Andrew

Publication type:

journal article

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.

Published in:

2005

By:

Khan, Naheed L.;
Horta, Wagner;
Eunson, Louise;
Graham, Elizabeth;
Johnson, Janel O.;
Chang, Shannon;
Davis, Mary;
Singleton, Andrew;
Wood, Nicholas W.;
Lees, Andrew J.

Publication type:

journal article

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.

Published in:

Movement Disorders, 2004, v. 19, n. 2, p. 228, doi. 10.1002/mds.10626

By:

Bruno, Michiko K.;
Ravina, Bernard;
Garraux, Gaetan;
Hallett, Mark;
Ptacek, Louis;
Singleton, Amanda;
Johnson, Janel;
Singleton, Andrew;
Hanson, Melissa;
Considine, Elaine;
Gwinn-Hardy, Katrina

Publication type:

Article

Hereditary Spastic Paraplegia Type 43 ( SPG43) is Caused by Mutation in C19orf12.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1357, doi. 10.1002/humu.22378

By:

Landouré, Guida;
Zhu, Peng‐Peng;
Lourenço, Charles M.;
Johnson, Janel O.;
Toro, Camilo;
Bricceno, Katherine V.;
Rinaldi, Carlo;
Meilleur, Katherine G.;
Sangaré, Modibo;
Diallo, Oumarou;
Pierson, Tyler M.;
Ishiura, Hiroyuki;
Tsuji, Shoji;
Hein, Nichole;
Fink, John K.;
Stoll, Marion;
Nicholson, Garth;
Gonzalez, Michael A.;
Speziani, Fiorella;
Dürr, Alexandra

Publication type:

Article

Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation.

Published in:

Neurodegenerative Diseases, 2007, v. 4, n. 5, p. 386, doi. 10.1159/000105160

By:

Johnson, Janel;
Paisán-Ruíz, Coro;
Lopez, Grisel;
Crews, Cynthia;
Britton, Angela;
Malkani, Roniel;
Evans, E.Whitney;
McInerney-Leo, Aideen;
Jain, Shushant;
Nussbaum, Robert L.;
Foote, Kelly D.;
Mandel, Ronald J.;
Crawley, Anthony;
Reimsnider, Sharon;
Fernandez, Hubert H.;
Okun, Michael S.;
Gwinn-Hardy, Katrina;
Singleton, Andrew B.

Publication type:

Article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Published in:

Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688

By:

Johnson, Janel O;
Pioro, Erik P;
Boehringer, Ashley;
Chia, Ruth;
Feit, Howard;
Renton, Alan E;
Pliner, Hannah A;
Abramzon, Yevgeniya;
Marangi, Giuseppe;
Winborn, Brett J;
Gibbs, J Raphael;
Nalls, Michael A;
Morgan, Sarah;
Shoai, Maryam;
Hardy, John;
Pittman, Alan;
Orrell, Richard W;
Malaspina, Andrea;
Sidle, Katie C;
Fratta, Pietro

Publication type:

Article

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Published in:

2017

By:

Caress, James B.;
Johnson, Janel O.;
Abramzon, Yevgeniya A.;
Hawkins, Gregory A.;
Gibbs, J. Raphael;
Sullivan, Elizabeth A.;
Chahal, Chamanpreet S.;
Traynor, Bryan J.

Publication type:

Case Study

TRH-Catecholamine Interactions in Brain and Spinal Corda.

Published in:

Annals of the New York Academy of Sciences, 1989, v. 553, n. 1, p. 106, doi. 10.1111/j.1749-6632.1989.tb54480.x

By:

BENNETT, GEOFFREY W.;
MARSDEN, CHARLES A.;
FONE, KEVIN C. F.;
JOHNSON, JANEL V.;
HEAL, DAVID J.

Publication type:

Article

Ventral Horn Neuropeptides Modulate the Release of Noradrenaline from Tissue Slices of Rat Brainstem and Ventral Thoracic Spinal Cord.

Published in:

Journal of Neurochemistry, 1991, v. 57, n. 3, p. 845, doi. 10.1111/j.1471-4159.1991.tb08228.x

By:

Fone, Kevin C. F.;
Johnson, Janel V.;
Putland, Anthony P.;
Bennett, Geoffrey W.

Publication type:

Article

Clinical and genetic analysis of spinocerebellar ataxia type 11.

Published in:

Cerebellum, 2008, v. 7, n. 2, p. 159, doi. 10.1007/s12311-008-0022-3

By:

Johnson, Janel;
Wood, Nicholas;
Giunti, Paola;
Houlden, Henry

Publication type:

Article

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Published in:

2020

By:

Sullivan, Jeremy M.;
Motley, William W.;
Johnson, Janel O.;
Aisenberg, William H.;
Marshall, Katherine L.;
Barwick, Katy E. S.;
Lingling Kong;
Huh, Jennifer S.;
Saavedra-Rivera, Pamela C.;
McEntagart, Meriel M.;
Marion, Marie-Helene;
Hicklin, Lucy A.;
Modarres, Hamid;
Baple, Emma L.;
Farah, Mohamed H.;
Zuberi, Aamir R.;
Lutz, Cathleen M.;
Gaudet, Rachelle;
Traynor, Bryan J.;
Crosby, Andrew H.

Publication type:

journal article