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Janel Johnson Ph.D.

Molecular Geneticist experienced in Neuroscience, Oncology, Immunology, and Intellectual Property

New York, New York, United States of America

Research Expertise

Genetics
Neurodegeneration
Amyotrophic Lateral Sclerosis
Frontotemporal Demetia
Next Generation Sequencing

About

Dr. Janel Johnson is a distinguished Biologist with over 20 years of dedicated academic research focused on the genetics of Neuroscience, Oncology, and Immunology. She obtained her BA in Biology from The Johns Hopkins University in 1999, following which she conducted groundbreaking research at The Johns Hopkins University Sidney Kimmel Cancer Center. Here, she explored the selective cytotoxic effects of a tyrosine kinase inhibitor in a transgenic mouse model of acute myeloid leukemia. Transitioning to The National Institutes of Health (NIH), Dr. Johnson continued her impactful career, making significant contributions to the study of Alzheimer’s disease and Parkinson's disease genetics. Sponsored by the NIH, she pursued her MPhil and PhD in Molecular Genetics at University College London, focusing on unraveling the genetic basis of Spinocerebellar Ataxia (SCA) and Childhood Motor Neuron Disease. Notably, her research elucidated that mutations in the Tau Tubulin Kinase 2 gene cause SCA Type 11, and she identified riboflavin transporter mutations as the underlying cause of Childhood Motor Neuron Disease, highlighting the potential for vitamin B2 supplementation as a therapeutic intervention. Furthering her postgraduate research at NIH, Dr. Johnson delved into investigating the genetics of Amyotrophic Lateral Sclerosis (ALS) and related motor neuron disorders. Her seminal findings uncovered that mutations in genes such as Valosin Containing Protein, Matrin-3, and a serine palmitoyltransferase subunit contribute to the pathogenesis of ALS, shedding light on overlapping pathways and pleiotropic effects on other diseases. In addition to her extensive research endeavors, Dr. Johnson has made significant strides in HIV research at the Walter Reed Army Institute of Research, utilizing novel multiomics technologies to investigate interactions between the retrovirus and host cells. Her recent experience in immunology includes serving as a Patent Examiner for the United States Patent and Trademark Office, where she evaluated inventions for cancer immunotherapy. Dr. Johnson is widely recognized in the field of molecular genetics for her expertise and numerous scientific breakthroughs, contributing significantly to our understanding of complex disorders. She is deeply passionate about research and serves as a vocal advocate for diversity, equity, and inclusion (DEI) in science and healthcare. Dr. Johnson's exceptional talent lies in her ability to effectively communicate scientific concepts to both experts and the general public. Her lifelong commitment is to achieve DEI for genetic populations that have been traditionally understudied.

Publications

α-Synuclein Locus Triplication Causes Parkinson's Disease

Science / Oct 31, 2003

Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., Lincoln, S., Crawley, A., Hanson, M., Maraganore, D., Adler, C., Cookson, M. R., Muenter, M., Baptista, M., Miller, D., … Gwinn-Hardy, K. (2003). α-Synuclein Locus Triplication Causes Parkinson’s Disease. Science, 302(5646), 841–841. https://doi.org/10.1126/science.1090278

Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

Neuron / Nov 01, 2004

Paisán-Ruı́z, C., Jain, S., Evans, E. W., Gilks, W. P., Simón, J., van der Brug, M., de Munain, A. L., Aparicio, S., Gil, A. M., Khan, N., Johnson, J., Martinez, J. R., Nicholl, D., Carrera, I. M., Peňa, A. S., de Silva, R., Lees, A., Martı́-Massó, J. F., Pérez-Tur, J., … Singleton, A. B. (2004). Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson’s Disease. Neuron, 44(4), 595–600. https://doi.org/10.1016/j.neuron.2004.10.023

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Neuron / Dec 01, 2010

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., Martinez-Lage, M., Falcone, D., Hernandez, D. G., Arepalli, S., Chong, S., Schymick, J. C., Rothstein, J., … Traynor, B. J. (2010). Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS. Neuron, 68(5), 857–864. https://doi.org/10.1016/j.neuron.2010.11.036

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Yearbook of Neurology and Neurosurgery / Jan 01, 2012

Reisin, R. (2012). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Yearbook of Neurology and Neurosurgery, 2012, 170–172. https://doi.org/10.1016/j.yneu.2012.05.040

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Nature Neuroscience / Mar 30, 2014

Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J. R., Nalls, M. A., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R. W., Malaspina, A., … Traynor, B. J. (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience, 17(5), 664–666. https://doi.org/10.1038/nn.3688

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

Annals of Neurology / Jul 25, 2003

Hague, S., Rogaeva, E., Hernandez, D., Gulick, C., Singleton, A., Hanson, M., Johnson, J., Weiser, R., Gallardo, M., Ravina, B., Gwinn‐Hardy, K., Crawley, A., St. George‐Hyslop, P. H., Lang, A. E., Heutink, P., Bonifati, V., Hardy, J., & Singleton, A. (2003). Early‐onset Parkinson’s disease caused by a compound heterozygous DJ‐1 mutation. Annals of Neurology, 54(2), 271–274. Portico. https://doi.org/10.1002/ana.10663

Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease

Archives of Neurology / Dec 01, 2004

Rogaeva, E., Johnson, J., Lang, A. E., Gulick, C., Gwinn-Hardy, K., Kawarai, T., Sato, C., Morgan, A., Werner, J., Nussbaum, R., Petit, A., Okun, M. S., McInerney, A., Mandel, R., Groen, J. L., Fernandez, H. H., Postuma, R., Foote, K. D., Salehi-Rad, S., … Singleton, A. B. (2004). Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease. Archives of Neurology, 61(12). https://doi.org/10.1001/archneur.61.12.1898

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

Nature Genetics / Nov 25, 2007

Houlden, H., Johnson, J., Gardner-Thorpe, C., Lashley, T., Hernandez, D., Worth, P., Singleton, A. B., Hilton, D. A., Holton, J., Revesz, T., Davis, M. B., Giunti, P., & Wood, N. W. (2007). Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nature Genetics, 39(12), 1434–1436. https://doi.org/10.1038/ng.2007.43

A Genome-Wide Association Study of Myasthenia Gravis

JAMA Neurology / Apr 01, 2015

Renton, A. E., Pliner, H. A., Provenzano, C., Evoli, A., Ricciardi, R., Nalls, M. A., Marangi, G., Abramzon, Y., Arepalli, S., Chong, S., Hernandez, D. G., Johnson, J. O., Bartoccioni, E., Scuderi, F., Maestri, M., Gibbs, J. R., Errichiello, E., Chiò, A., Restagno, G., … Traynor, B. J. (2015). A Genome-Wide Association Study of Myasthenia Gravis. JAMA Neurology, 72(4), 396. https://doi.org/10.1001/jamaneurol.2014.4103

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

Brain / Jun 26, 2012

Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simón-Sánchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H., & Singleton, A. B. (2012). Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain, 135(9), 2875–2882. https://doi.org/10.1093/brain/aws161

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

Brain / Sep 26, 2014

Johnson, J. O., Glynn, S. M., Gibbs, J. R., Nalls, M. A., Sabatelli, M., Restagno, G., Drory, V. E., Chiò, A., Rogaeva, E., & Traynor, B. J. (2014). Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain, 137(12), e311–e311. https://doi.org/10.1093/brain/awu265

Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

Archives of Neurology / May 01, 2011

Chiò, A. (2011). Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene. Archives of Neurology, 68(5), 594. https://doi.org/10.1001/archneurol.2010.352

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

Annals of Neurology / Feb 24, 2005

Hernandez, D. G., Paisán‐Ruíz, C., McInerney‐Leo, A., Jain, S., Meyer‐Lindenberg, A., Evans, E. W., Berman, K. F., Johnson, J., Auburger, G., Schäffer, A. A., Lopez, G. J., Nussbaum, R. L., & Singleton, A. B. (2005). Clinical and positron emission tomography of Parkinson’s disease caused by LRRK2. Annals of Neurology, 57(3), 453–456. Portico. https://doi.org/10.1002/ana.20401

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

Neurobiology of Aging / Sep 01, 2012

Abramzon, Y., Johnson, J. O., Scholz, S. W., Taylor, J. P., Brunetti, M., Calvo, A., Mandrioli, J., Benatar, M., Mora, G., Restagno, G., Chiò, A., & Traynor, B. J. (2012). Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 33(9), 2231.e1-2231.e6. https://doi.org/10.1016/j.neurobiolaging.2012.04.005

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

Human Mutation / Aug 12, 2013

Landouré, G., Zhu, P.-P., Lourenço, C. M., Johnson, J. O., Toro, C., Bricceno, K. V., Rinaldi, C., Meilleur, K. G., Sangaré, M., Diallo, O., Pierson, T. M., Ishiura, H., Tsuji, S., Hein, N., Fink, J. K., Stoll, M., Nicholson, G., Gonzalez, M. A., … Speziani, F. (2013). Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12. Human Mutation, 34(10), 1357–1360. https://doi.org/10.1002/humu.22378

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Neurology / Aug 10, 2004

Johnson, J., Hague, S. M., Hanson, M., Gibson, A., Wilson, K. E., Evans, E. W., Singleton, A. A., McInerney-Leo, A., Nussbaum, R. L., Hernandez, D. G., Gallardo, M., McKeith, I. G., Burn, D. J., Ryu, M., Hellstrom, O., Ravina, B., Eerola, J., Perry, R. H., Jaros, E., … Singleton, A. B. (2004). SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology, 63(3), 554–556. https://doi.org/10.1212/01.wnl.0000133401.09043.44

Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia

JAMA Neurology / May 01, 2015

Rinaldi, C., Schmidt, T., Situ, A. J., Johnson, J. O., Lee, P. R., Chen, K., Bott, L. C., Fadó, R., Harmison, G. H., Parodi, S., Grunseich, C., Renvoisé, B., Biesecker, L. G., De Michele, G., Santorelli, F. M., Filla, A., Stevanin, G., Dürr, A., Brice, A., … Fischbeck, K. H. (2015). Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurology, 72(5), 561. https://doi.org/10.1001/jamaneurol.2014.4769

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

Archives of Neurology / May 01, 2011

Marelli, C., van de Leemput, J., Johnson, J. O., Tison, F., Thauvin-Robinet, C., Picard, F., Tranchant, C., Hernandez, D. G., Huttin, B., Boulliat, J., Sangla, I., Marescaux, C., Brique, S., Dollfus, H., Arepalli, S., Benatru, I., Ollagnon, E., Forlani, S., Hardy, J., … Brice, A. (2011). SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia. Archives of Neurology, 68(5). https://doi.org/10.1001/archneurol.2011.81

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

The American Journal of Human Genetics / Oct 01, 2010

Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., & Singleton, A. B. (2010). Exome Sequencing in Brown-Vialetto-Van Laere Syndrome. The American Journal of Human Genetics, 87(4), 567–569. https://doi.org/10.1016/j.ajhg.2010.05.021

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants

European Journal of Neurology / Jan 01, 2007

Xiromerisiou, G., Hadjigeorgiou, G. M., Gourbali, V., Johnson, J., Papakonstantinou, I., Papadimitriou, A., & Singleton, A. B. (2007). Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson’s disease: identification of two novel LRRK2 variants. European Journal of Neurology, 14(1), 7–11. Portico. https://doi.org/10.1111/j.1468-1331.2006.01551.x

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Neurobiology of Aging / Apr 01, 2015

Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Traynor, B. J., Johnson, J. O., Nalls, M. A., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M. R., La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F. O., Nilo, R., Battistini, S., Mandrioli, J., … Lunetta, C. (2015). CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 36(4), 1767.e3-1767.e6. https://doi.org/10.1016/j.neurobiolaging.2015.01.017

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Neurology / Jul 10, 2012

Sailer, A., Scholz, S. W., Gibbs, J. R., Tucci, A., Johnson, J. O., Wood, N. W., Plagnol, V., Hummerich, H., Ding, J., Hernandez, D., Hardy, J., Federoff, H. J., Traynor, B. J., Singleton, A. B., & Houlden, H. (2012). Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology, 79(2), 127–131. https://doi.org/10.1212/wnl.0b013e31825f048e

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

Movement Disorders / Jan 07, 2005

Khan, N. L., Horta, W., Eunson, L., Graham, E., Johnson, J. O., Chang, S., Davis, M., Singleton, A., Wood, N. W., & Lees, A. J. (2005). Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years. Movement Disorders, 20(4), 479–484. Portico. https://doi.org/10.1002/mds.20335

Assessment of a DJ-1 ( PARK7 ) polymorphism in Finnish PD

Neurology / Oct 14, 2003

Eerola, J., Hernandez, D., Launes, J., Hellström, O., Hague, S., Gulick, C., Johnson, J., Peuralinna, T., Hardy, J., Tienari, P. J., & Singleton, A. B. (2003). Assessment of a DJ-1 ( PARK7 ) polymorphism in Finnish PD. Neurology, 61(7), 1000–1002. https://doi.org/10.1212/01.wnl.0000083992.28066.7e

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 / Jun 21, 2010

Traynor, B. J., Nalls, M., Lai, S.-L., Gibbs, R. J., Schymick, J. C., Arepalli, S., Hernandez, D., van der Brug, M. P., Johnson, J. O., Dillman, A., Cookson, M., Moglia, C., Calvo, A., Restagno, G., Mora, G., & Chiò, A. (2010). 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, 107(27), 12335–12338. https://doi.org/10.1073/pnas.0914079107

Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

JAMA Neurology / Jun 01, 2015

Zukosky, K., Meilleur, K., Traynor, B. J., Dastgir, J., Medne, L., Devoto, M., Collins, J., Rooney, J., Zou, Y., Yang, M. L., Gibbs, J. R., Meier, M., Stetefeld, J., Finkel, R. S., Schessl, J., Elman, L., Felice, K., Ferguson, T. A., Ceyhan-Birsoy, O., … Bönnemann, C. G. (2015). Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurology, 72(6), 689. https://doi.org/10.1001/jamaneurol.2015.37

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

Movement Disorders / Jun 08, 2011

Gwinn, K., Devine, M. J., Jin, L., Johnson, J., Bird, T., Muenter, M., Waters, C., Adler, C. H., Caselli, R., Houlden, H., Lopez, G., Singleton, A., Hardy, J., & Singleton, A. (2011). Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred). Movement Disorders, 26(11), 2134–2136. Portico. https://doi.org/10.1002/mds.23776

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Neurology / Jul 10, 2012

Landouré, G., Sullivan, J. M., Johnson, J. O., Munns, C. H., Shi, Y., Diallo, O., Gibbs, J. R., Gaudet, R., Ludlow, C. L., Fischbeck, K. H., Traynor, B. J., Burnett, B. G., & Sumner, C. J. (2012). Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology, 79(2), 192–194. https://doi.org/10.1212/wnl.0b013e31825f04b2

Comprehensive Screening of a North American Parkinson’s Disease Cohort for <i>LRRK2</i> Mutation

Neurodegenerative Diseases / Jan 01, 2007

Johnson, J., Paisán-Ruíz, C., Lopez, G., Crews, C., Britton, A., Malkani, R., Evans, E. W., McInerney-Leo, A., Jain, S., Nussbaum, R. L., Foote, K. D., Mandel, R. J., Crawley, A., Reimsnider, S., Fernandez, H. H., Okun, M. S., Gwinn-Hardy, K., & Singleton, A. B. (2007). Comprehensive Screening of a North American Parkinson’s Disease Cohort for &lt;i&gt;LRRK2&lt;/i&gt; Mutation. Neurodegenerative Diseases, 4(5), 386–391. Portico. https://doi.org/10.1159/000105160

Clinical and genetic analysis of spinocerebellar ataxia type 11

The Cerebellum / Apr 12, 2008

Johnson, J., Wood, N., Giunti, P., & Houlden, H. (2008). Clinical and genetic analysis of spinocerebellar ataxia type 11. The Cerebellum, 7(2), 159–164. https://doi.org/10.1007/s12311-008-0022-3

A consanguineous Turkish family with early‐onset Parkinson's disease and an exon 4 parkin deletion

Movement Disorders / Feb 12, 2004

Dogu, O., Johnson, J., Hernandez, D., Hanson, M., Hardy, J., Apaydin, H., Özekmekçi, S., Sevim, S., Gwinn‐Hardy, K., & Singleton, A. (2004). A consanguineous Turkish family with early‐onset Parkinson’s disease and an exon 4 parkin deletion. Movement Disorders, 19(7), 812–816. Portico. https://doi.org/10.1002/mds.20028

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 / Jan 05, 2005

Clarimon, J., Johnson, J., Dogu, O., Horta, W., Khan, N., Lees, A. J., Hardy, J., & Singleton, A. (2005). 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, 133B(1), 120–123. Portico. https://doi.org/10.1002/ajmg.b.30119

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

Movement Disorders / Oct 10, 2003

Bruno, M. K., Ravina, B., Garraux, G., Hallett, M., Ptacek, L., Singleton, A., Johnson, J., Singleton, A., Hanson, M., Considine, E., & Gwinn‐Hardy, K. (2003). Exercise‐induced dystonia as a preceding symptom of familial Parkinson’s disease. Movement Disorders, 19(2), 228–230. Portico. https://doi.org/10.1002/mds.10626

A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD

Neurobiology of Aging / Mar 01, 2015

Rollinson, S., Bennion Callister, J., Young, K., Ryan, S. J., Druyeh, R., Rohrer, J. D., Snowden, J., Richardson, A., Jones, M., Harris, J., Davidson, Y., Robinson, A., Ealing, J., Johnson, J. O., Traynor, B., Mead, S., Mann, D., & Pickering-Brown, S. M. (2015). A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD. Neurobiology of Aging, 36(3), 1601.e1-1601.e5. https://doi.org/10.1016/j.neurobiolaging.2014.12.009

A candidate gene for autoimmune myasthenia gravis

Neurology / Jul 24, 2012

Landouré, G., Knight, M. A., Stanescu, H., Taye, A. A., Shi, Y., Diallo, O., Johnson, J. O., Hernandez, D., Traynor, B. J., Biesecker, L. G., Elkahloun, A., Rinaldi, C., Vincent, A., Willcox, N., Kleta, R., Fischbeck, K. H., & Burnett, B. G. (2012). A candidate gene for autoimmune myasthenia gravis. Neurology, 79(4), 342–347. https://doi.org/10.1212/wnl.0b013e318260cbd0

Smoking‐responsive juvenile‐onset Parkinsonism

Movement Disorders / Jan 01, 2007

Hanagasi, H. A., Lees, A., Johnson, J. O., Singleton, A., & Emre, M. (2007). Smoking‐responsive juvenile‐onset Parkinsonism. Movement Disorders, 22(1), 115–119. Portico. https://doi.org/10.1002/mds.21177

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Jun 07, 2021

Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., Speciale, A. A., Criscuolo, C., Filla, A., Chitayat, D., Nemeth, A. H., Angelucci, F., Lim, W. F., Striano, P., Zara, F., Helbig, I., Muona, M., Courage, C., … Lehesjoki, A.-E. (2021). Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. https://doi.org/10.1101/2021.06.01.21257500

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Neurobiology of Aging / Oct 01, 2015

Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Lunetta, C., Traynor, B. J., Johnson, J. O., Nalls, M. A., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M. R., La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F. O., Nilo, R., Giannini, F., … Restagno, G. (2015). HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiology of Aging, 36(10), 2906.e7-2906.e11. https://doi.org/10.1016/j.neurobiolaging.2015.06.016

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Neuron / Oct 01, 2011

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., … Traynor, B. J. (2011). A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron, 72(2), 257–268. https://doi.org/10.1016/j.neuron.2011.09.010

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Journal of Clinical Investigation / Feb 17, 2020

Sullivan, J. M., Motley, W. W., Johnson, J. O., Aisenberg, W. H., Marshall, K. L., Barwick, K. E. S., Kong, L., Huh, J. S., Saavedra-Rivera, P. C., McEntagart, M. M., Marion, M.-H., Hicklin, L. A., Modarres, H., Baple, E. L., Farah, M. H., Zuberi, A. R., Lutz, C. M., Gaudet, R., Traynor, B. J., … Sumner, C. J. (2020). Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. Journal of Clinical Investigation, 130(3), 1506–1512. https://doi.org/10.1172/jci128152

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

Movement Disorders / Dec 27, 2014

Johnson, J. O., Stevanin, G., van de Leemput, J., Hernandez, D. G., Arepalli, S., Forlani, S., Zonozi, R., Gibbs, J. R., Brice, A., Durr, A., & Singleton, A. B. (2014). A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associated with a novel spastic ataxia syndrome. Movement Disorders, 30(2), 262–266. Portico. https://doi.org/10.1002/mds.26059

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 / Jun 01, 2004

Johnson, J., Ostojic, J., Lannfelt, L., Glaser, A., Basun, H., Rogaeva, E., Kawarai, T., Bruni, A., St. George Hyslop, P. H., Goate, A., Pastor, P., Chakraverty, S., Norton, J., Morris, J. C., Hardy, J., & Singleton, A. (2004). 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, 363(2), 99–101. https://doi.org/10.1016/j.neulet.2004.03.070

Spinocerebellar ataxia type 11

Handbook of Clinical Neurology / Jan 01, 2012

Giunti, P., Houlden, H., Gardner-Thorpe, C., Worth, P. F., Johnson, J., Hilton, D. A., Revesz, T., Davis, M. B., & Wood, N. W. (2012). Spinocerebellar ataxia type 11. In Ataxic Disorders (pp. 521–534). Elsevier. https://doi.org/10.1016/b978-0-444-51892-7.00033-4

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

Muscle & Nerve / Mar 23, 2017

Caress, J. B., Johnson, J. O., Abramzon, Y. A., Hawkins, G. A., Gibbs, J. R., Sullivan, E. A., Chahal, C. S., & Traynor, B. J. (2017). Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy. Muscle &amp; Nerve, 56(5), 1001–1005. Portico. https://doi.org/10.1002/mus.25550

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

Neurobiology of Aging / Mar 01, 2016

Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Lunetta, C., Traynor, B. J., Johnson, J. O., Nalls, M. A., Calvo, A., Moglia, C., Borghero, G., Trojsi, F., La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F. O., Riva, N., Carrera, P., … Conforti, F. L. (2016). ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. Neurobiology of Aging, 39, 218.e5-218.e8. https://doi.org/10.1016/j.neurobiolaging.2015.11.027

Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period

Movement Disorders / Apr 25, 2005

Clarimon, J., Johnson, J., Djaldetti, R., Hernandez, D., Hattori, N., Sroka, H., Barhom, Y., & Singleton, A. (2005). Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period. Movement Disorders, 20(7), 887–890. Portico. https://doi.org/10.1002/mds.20495

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sep 19, 2019

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Abramzon, Y., Kumaran, R., Alahmady, N., Faghri, F., Renton, A. E., Topp, S. D., Pliner, H. A., Gibbs, J. R., Ding, J., Smith, N., Landeck, N., Nalls, M. A., Cookson, M. R., Pletnikova, O., … Troncoso, J. (2019). Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation. https://doi.org/10.1101/770339

P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness

Neuromuscular Disorders / Oct 01, 2011

Perkins, K. Z., Meilleur, K., Medne, L., Devoto, M., Tennekoon, G., Yum, S., Yang, M., Finkel, R., Johnson, J., Gibbs, J. R., Ferguson, T., Zou, Y., Traynor, B., & Bonnemann, C. (2011). P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness. Neuromuscular Disorders, 21(9–10), 696–697. https://doi.org/10.1016/j.nmd.2011.06.942

Education

University College London

Ph.D., Molecular Neuroscience

London

University College London

M.Phil, Molecular Genetics

London

B.A., Biology / May, 1999

Baltimore, Maryland, United States of America

Links & Social Media

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