Nizar Chahin

Assistant Professor

  • 533 Citations
  • 10 h-Index
20002019
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Research Output 2000 2019

2019

Bright tongue sign in patients with late-onset Pompe disease

Karam, C., Dimitrova, D., Yutan, E. & Chahin, N., Jan 1 2019, In : Journal of Neurology.

Research output: Contribution to journalArticle

Open Access
Glycogen Storage Disease Type II
Tongue
Brain
Late Onset Disorders
Muscle Weakness

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Saha, M., Rizzo, S. A., Ramanathan, M., Hightower, R. M., Santostefano, K. E., Terada, N., Finkel, R. S., Berg, J. S., Chahin, N., Pacak, C. A., Wagner, R. E., Alexander, M. S., Draper, I. & Kang, P. B., Jul 15 2019, In : Human molecular genetics. 28, 14, p. 2365-2377 13 p., ddz064.

Research output: Contribution to journalArticle

Myoblasts
Serotonin Uptake Inhibitors
Muscular Diseases
Sertraline
Zebrafish
2018
9 Citations (Scopus)

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Haskell, G. T., Adams, M. C., Fan, Z., Amin, K., Badillo, R. J. G., Zhou, L., Bizon, C., Chahin, N., Greenwood, R. S., Milko, L. V., Shiloh-Malawsky, Y., Crooks, K. R., Strande, N., Tennison, M., Tilley, C. R., Brandt, A., Wilhelmsen, K. C., Weck, K., Evans, J. P. & Berg, J. S., Feb 1 2018, In : Neurology: Genetics. 4, 1, e212.

Research output: Contribution to journalArticle

Exome
Genes
Genome
Phenotype
Workflow
2017

Clinical Reasoning: A 14-year-old boy with fatigue and episodic worsening of weakness

Roy, B. & Chahin, N., Mar 14 2017, In : Neurology. 88, 11, p. e96-e100

Research output: Contribution to journalArticle

Fatigue
2016
85 Citations (Scopus)

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-Anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P. & 207 others, Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Brown, B. L., Burt, A. A., Byers, P. H., Calikoglu, M. G., Carlson, S. J., Chahin, N., Christensen, K. D., Cirino, A. L., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Hensman, N., Hiatt, S. M., Himes, P., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Hong, C., Horike-Pyne, M. J., Hull, S., Jamal, S., Jensen, B. C., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Kong, S. W., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., Macrae, C., Marchuk, D. S., Martinez, J. N., Masino, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Ng, D., Oliver, N. M., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Scarano, M. I., Schneider, J., Seidman, C. E., Seifert, B. A., Shirts, B. H., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Van Allen, E. M., Vassy, J. L., Vats, P., Vetter, V. L., Vries, R. D., Walser, S. A., Walsh, R. C., Werner-Lin, A., Whittle, J., Wilhelmsen, K. C., Yang, Y., Young, C. & Zikmund-Fisher, B. J., Jun 2 2016, In : American Journal of Human Genetics. 98, 6, p. 1051-1066 16 p.

Research output: Contribution to journalArticle

Evidence-Based Practice
Exome
Medicine
National Human Genome Research Institute (U.S.)
Research
11 Citations (Scopus)

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

Burns, T. M., Smith, G. A., Allen, J. A., Amato, A. A., Arnold, W. D., Barohn, R., Benatar, M., Bird, S. J., Bromberg, M., Chahin, N., Ciafaloni, E., Cohen, J. A., Corse, A., Crum, B. A., David, W. S., Dimberg, E., De Sousa, E. A., Donofrio, P. D., Dyck, P. J. B., Engel, A. G. & 86 others, Ensrud, E., Ferrante, M., Freimer, M., Gable, K. L., Gibson, S., Gilchrist, J. M., Goldstein, J. M., Gooch, C. L., Goodman, B. P., Gorelov, D., Gospe, S. M., Goyal, N. A., Guidon, A. C., Guptill, J. T., Gutmann, L., Gutmann, L., Gwathmey, K., Harati, Y., Harper, C. M., Hehir, M. K., Hobson-Webb, L. D., Howard, J. F., Jackson, C. E., Johnson, N., Jones, S. M., Juel, V. C., Kaminski, H. J., Karam, C., Kennelly, K. D., Khella, S., Khoury, J., Kincaid, J. C., Kissel, J. T., Kolb, N., Lacomis, D., Ladha, S., Larriviere, D., Lewis, R. A., Li, Y., Litchy, W. J., Logigian, E., Lou, J. S., Macgowen, D. J. L., Maselli, R., Massey, J. M., Mauermann, M. L., Mathews, K. D., Meriggioli, M. N., Miller, R. G., Moon, J. S., Mozaffar, T., Nations, S. P., Nowak, R. J., Ostrow, L. W., Pascuzzi, R. M., Peltier, A., Ruzhansky, K., Richman, D. P., Ross, M. A., Rubin, D. I., Russell, J. A., Sachs, G. M., Salajegheh, M. K., Saperstein, D. S., Scelsa, S., Selcen, D., Shaibani, A., Shieh, P. B., Silvestri, N. J., Singleton, J. R., Smith, B. E., So, Y. T., Solorzano, G., Sorenson, E. J., Srinivasen, J., Tavee, J., Tawil, R., Thaisetthawatkul, P., Thornton, C., Trivedi, J., Vernino, S., Wang, A. K., Webb, T. A., Weiss, M. D., Windebank, A. J. & Wolfe, G. I., Feb 1 2016, In : Muscle and Nerve. 53, 2, p. 165-168 4 p.

Research output: Contribution to journalEditorial

15 Citations (Scopus)

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P. & 259 others, Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Amendola, L., Appelbaum, P. S., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Brown, B. L., Burt, A. A., Byers, P. H., Caga-anan, C. F., Calikoglu, M. G., Carlson, S. J., Chahin, N., Chinnaiyan, A. M., Christensen, K. D., Chung, W., Cirino, A. L., Clayton, E., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Evans, J. P., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Fullerton, S. M., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Goddard, K., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Gray, S. W., Green, R., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Henderson, G. E., Hensman, N., Hiatt, S. M., Himes, P., Hindorff, L. A., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Holm, I. A., Hong, C., Horike-Pyne, M. J., Hull, S., Hutter, C. M., Jamal, S., Jarvik, G. P., Jensen, B. C., Joffe, S., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Knoppers, B., Koenig, B. A., Kong, S. W., Krantz, I., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lewis, M., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., MacRae, C., Manolio, T. A., Marchuk, D. S., Martinez, J. N., Masino, A., McCullough, L., McEwen, J., McGuire, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Muzny, D., Myers, R. M., Ng, D., Nickerson, D. A., Oliver, N. M., Ou, J., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Petersen, G., Plon, S., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Rehm, H. L., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Salama, J., Scarano, M. I., Schneider, J., Scollon, S., Seidman, C. E., Seifert, B. A., Sharp, R. R., Shirts, B. H., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Spinner, N. B., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Tabor, H. K., Tarczy-Hornoch, P., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Ubel, P., Van Allen, E. M., Vassy, J. L., Vats, P., Veenstra, D. L., Vetter, V. L., Vries, R. D., Wagle, N., Walser, S. A., Walsh, R. C., Weck, K., Werner-Lin, A., Whittle, J., Wilfond, B., Wilhelmsen, K. C., Wolf, S. M., Wynn, J., Yang, Y., Young, C., Yu, J. H. & Zikmund-Fisher, B. J., Jul 7 2016, In : American Journal of Human Genetics. 99, 1, p. 246 1 p.

Research output: Contribution to journalComment/debate

Evidence-Based Practice
Medical Genetics
Names
Medicine
Research
2015
1 Citation (Scopus)

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease

Henry, J. M., Chahin, N., Shiloh-Malawsky, Y., Fan, Z. & Selcen, D., Jun 17 2015, In : Journal of Neurology. 262, 6, p. 1587-1589 3 p.

Research output: Contribution to journalLetter

REM Sleep Behavior Disorder
Neuromuscular Diseases
Myopathy, Congenital, With Excess of Muscle Spindles
Surveys and Questionnaires

Clinical Reasoning: A patient with rapidly progressive sensory loss and imbalance

Lee, E., Karam, C. & Chahin, N., May 12 2015, In : Neurology. 84, 19, p. e140-e145

Research output: Contribution to journalComment/debate

Vestibular Diseases
Charcot-Marie-Tooth Disease
Abnormal Reflexes
Guillain-Barre Syndrome
Paresthesia
5 Citations (Scopus)

Dermatomyositis as a presentation of neuromyelitis optica spectrum disorder

Delman, D., Peng, X., Zedek, D. C., Jewells, V., Chahin, N. & Markovic-Plese, S., Jan 15 2015, In : Journal of Neuroimmunology. 278, p. 108-111 4 p.

Research output: Contribution to journalArticle

Neuromyelitis Optica
Dermatomyositis
Urinary Retention
Spinal Cord Diseases
Interstitial Lung Diseases
2 Citations (Scopus)

Late-onset Becker muscular dystrophy: Refining the clinical features and electrophysiological findings

Beltran Papsdorf, T., Howard, J. F. & Chahin, N., Nov 1 2015, In : Muscle and Nerve. 52, 5, p. 885-887 3 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Muscles
Inclusion Body Myositis
Biopsy
Unnecessary Procedures
6 Citations (Scopus)
Mycophenolic Acid
Neuromuscular Diseases
Encephalitis
Immunotherapy
Sulfadiazine
2014
31 Citations (Scopus)

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Fan, Z., Wang, J., Ahn, M., Shiloh-Malawsky, Y., Chahin, N., Elmore, S., Bagnell, C. R., Wilber, K., An, H., Lin, W., Zhu, H., Styner, M. & Kornegay, J. N., Feb 2014, In : Neuromuscular Disorders. 24, 2, p. 178-191 14 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Natural History
Biomarkers
Magnetic Resonance Imaging
Dogs
7 Citations (Scopus)

Pearls and Oy-sters: Clues to the diagnosis of adult-onset acid maltase deficiency

Papsdorf, T. B. B., Howard, J. F. & Chahin, N., Mar 4 2014, In : Neurology. 82, 9

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Pearl
Onset
2013
4 Citations (Scopus)
NAV1.4 Voltage-Gated Sodium Channel
Rhabdomyolysis
Family Health
Muscle Weakness
Mutation
2010
15 Citations (Scopus)

HIV lumbosacral radiculoplexus neuropathy mimicking lymphoma: Diffuse infiltrative lymphocytosis syndrome (DILS) restricted to nerve?

Chahin, N., Temesgen, Z., Kurtin, P. J., Spinner, R. J. & Dyck, P. J. B., Feb 2010, In : Muscle and Nerve. 41, 2, p. 276-282 7 p.

Research output: Contribution to journalArticle

Lymphocytosis
Non-Hodgkin's Lymphoma
Lumbosacral Plexus
HIV
T-Lymphocytes
2009
49 Citations (Scopus)

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis

Chahin, N. & Sorenson, E. J., Jul 2009, In : Muscle and Nerve. 40, 1, p. 126-129 4 p.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Amyotrophic Lateral Sclerosis
Creatine Kinase
Serum
Biopsy
2008
155 Citations (Scopus)

Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM

Chahin, N. & Engel, A. G., Feb 5 2008, In : Neurology. 70, 6, p. 418-424 7 p.

Research output: Contribution to journalArticle

Inclusion Body Myositis
Polymyositis
Biopsy
Muscles
Autoimmune Diseases
44 Citations (Scopus)

Natural history of spinal-bulbar muscular atrophy

Chahin, N., Klein, C., Mandrekar, J. & Sorenson, E., May 20 2008, In : Neurology. 70, 21, p. 1967-1971 5 p.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Survival
Survivors
Motor Neuron Disease
Gastrostomy
2007
5 Citations (Scopus)

Two causes of demyelinating neuropathy in one patient: CMT1A and POEMS syndrome

Chahin, N., Zeldenrust, S. R., Amrami, K. K., Engelstad, J. K. & Dyck, P. J. B., Aug 2007, In : Canadian Journal of Neurological Sciences. 34, 3, p. 380-385 6 p.

Research output: Contribution to journalArticle

DNA Mutational Analysis
POEMS Syndrome
Giant Lymph Node Hyperplasia
Charcot-Marie-Tooth Disease
Autologous Blood Transfusions
2005
77 Citations (Scopus)

Sporadic late onset nemaline myopathy

Chahin, N., Selcen, D. & Engel, A. G., Oct 25 2005, In : Neurology. 65, 8, p. 1158-1164 7 p.

Research output: Contribution to journalReview article

Nemaline Myopathies
Paraproteinemias
Electron Microscopy
Actinin
Frozen Sections
2000
12 Citations (Scopus)

Palatal myoclonus secondary to vertebral artery compression of the inferior olive

Meyer, M. A., David, C. E. & Chahin, N., 2000, In : Journal of Neuroimaging. 10, 4, p. 221-223 3 p.

Research output: Contribution to journalArticle

Myoclonus
Vertebral Artery
Magnetic Resonance Imaging
Microvascular Decompression Surgery
Magnetic Resonance Angiography