Ali Fatemi

2025

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

Dominguez Gonzalez, C. A., Spinner, N. B., Ahrens-Nicklas, R. C., Young, L. R., Voss, L. A., Reichert, S. L., Gallo, D. J., Cohen, J., Bonkowsky, J. L., Keller, S. R., Bennett, M. L., Pizzino, A. M., Swantkowski, M., Arnold, K., Fraser, J. L., Emerson, F. J., Miettunen, K., Fatemi, A., Van Haren, K. P. & Adang, L. & 4 others, Waldman, A., Emrick, L., Eichler, F. & Vanderver, A., Jul 2025, In: Genetics in Medicine. 27, 7, 101425.

Research output: Contribution to journal › Editorial › peer-review

2024

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Adang, L. A., Bonkowsky, J. L., Boelens, J. J., Mallack, E., Ahrens-Nicklas, R., Bernat, J. A., Bley, A., Burton, B., Darling, A., Eichler, F., Eklund, E., Emrick, L., Escolar, M., Fatemi, A., Fraser, J. L., Gaviglio, A., Keller, S., Patterson, M. C., Orchard, P. & Orthmann-Murphy, J. & 12 others, Santoro, J. D., Schöls, L., Sevin, C., Srivastava, I. N., Rajan, D., Rubin, J. P., Van Haren, K., Wasserstein, M., Zerem, A., Fumagalli, F., Laugwitz, L. & Vanderver, A., Jul 2024, In: Cytotherapy. 26, 7, p. 739-748 10 p.

Research output: Contribution to journal › Article › peer-review

De novo variants in DENND5B cause a neurodevelopmental disorder

Undiagnosed Diseases Network, Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.

Research output: Contribution to journal › Article › peer-review

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Adang, L. A., Groeschel, S., Grzyb, C., D'Aiello, R., Gavazzi, F., Sherbini, O., Bronner, N., Patel, A., Vincent, A., Sevagamoorthy, A., Mutua, S., Muirhead, K., Schmidt, J., Pizzino, A., Yu, E., Jin, D., Eichler, F., Fraser, J. L., Emrick, L. & Van Haren, K. & 28 others, Boulanger, J. M., Ruzhnikov, M., Sylvain, M., Nguyen, C. T. É., Potic, A., Keller, S., Fatemi, A., Uebergang, E., Poe, M., Yazdani, P. A., Bernat, J., Lindstrom, K., Bonkowsky, J. L., Bernard, G., Stutterd, C. A., Orchard, P., Gupta, A. O., Ljungberg, M., Groenborg, S., Zambon, A., Locatelli, S., Fumagalli, F., Elguen, S., Kehrer, C., Krägeloh-Mann, I., Shults, J., Vanderver, A. & Escolar, M. L., Aug 2024, In: Molecular genetics and metabolism. 142, 4, 108521.

Research output: Contribution to journal › Article › peer-review

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

Yska, H. A. F., Turk, B. R., Fatemi, A., Goodman, J., Voermans, M., Amos, D., Amanat, M., van de Stadt, S., Engelen, M., Smith-Fine, A. & Keller, J., Nov 2024, In: Journal of Inherited Metabolic Disease. 47, 6, p. 1336-1347 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy

Golse, M., Weinhofer, I., Blanco, B., Barbier, M., Yazbeck, E., Huiban, C., Chaumette, B., Pichon, B., Fatemi, A., Pascual, S., Martinell, M., Berger, J., Perlbarg, V., Galanaud, D. & Mochel, F., Oct 1 2024, In: Brain. 147, 10, p. 3344-3351 8 p.

Research output: Contribution to journal › Article › peer-review

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Adang, L. A., Sevagamoorthy, A., Sherbini, O., Fraser, J. L., Bonkowsky, J. L., Gavazzi, F., D'Aiello, R., Modesti, N. B., Yu, E., Mutua, S., Kotes, E., Shults, J., Vincent, A., Emrick, L. T., Keller, S., Van Haren, K. P., Woidill, S., Barcelos, I., Pizzino, A. & Schmidt, J. L. & 3 others, Eichler, F., Fatemi, A. & Vanderver, A., May 2024, In: Molecular genetics and metabolism. 142, 1, 108453.

Research output: Contribution to journal › Review article › peer-review

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy

Kornbluh, A. B., Baldwin, A., Fatemi, A., Vanderver, A., Adang, L. A., Van Haren, K., Sampson, J., Eichler, F. S., Sadjadi, R., Engelen, M. & Orthmann-Murphy, J. L., Oct 3 2024, In: Neurology: Genetics. 10, 5, e200192.

Research output: Contribution to journal › Review article › peer-review

Open Access

Return of genetic research results in 21,532 individuals with autism

The SPARK Consortium, Oct 2024, In: Genetics in Medicine. 26, 10, 101202.

Research output: Contribution to journal › Article › peer-review

2023

A Phase 1 Study of Oral Vitamin D₃ in Boys and Young Men With X-Linked Adrenoleukodystrophy

Van Haren, K. P., Cunanan, K., Awani, A., Gu, M., Peña, D., Chromik, L. C., Považan, M., Rossi, N. C., Goodman, J., Sundaram, V., Winterbottom, J., Raymond, G., Cowan, T., Enns, G. M., Waubant, E., Steinman, L., Barker, P., Spielman, D. & Fatemi, A., Mar 31 2023, In: Neurology: Genetics. 9, 2, e200061.

Research output: Contribution to journal › Article › peer-review

Open Access

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Calame, D. G., Moreno Vadillo, C., Berger, S., Lotze, T., Shinawi, M., Poupak, J., Heller, C., Cohen, J., Person, R., Telegrafi, A., Phitsanuwong, C., Fiala, K., Thiffault, I., Del Viso, F., Zhou, D., Fleming, E. A., Pastinen, T., Fatemi, A., Thomas, S. & Pascual, S. I. & 9 others, Torres, R. J., Prior, C., Gómez-González, C., Biskup, S., Lupski, J. R., Maric, D., Holmgren, M., Regier, D. & Yano, S. T., Aug 1 2023, In: Brain. 146, 8, p. 3162-3171 10 p.

Research output: Contribution to journal › Article › peer-review

Clinical and functional consequences of GRIA variants in patients with neurological diseases

XiangWei, W., Perszyk, R. E., Liu, N., Xu, Y., Bhattacharya, S., Shaulsky, G. H., Smith-Hicks, C., Fatemi, A., Fry, A. E., Chandler, K., Wang, T., Vogt, J., Cohen, J. S., Paciorkowski, A. R., Poduri, A., Zhang, Y., Wang, S., Wang, Y., Zhai, Q. & Fang, F. & 10 others, Leng, J., Garber, K., Myers, S. J., Jauss, R. T., Park, K. L., Benke, T. A., Lemke, J. R., Yuan, H., Jiang, Y. & Traynelis, S. F., Nov 2023, In: Cellular and Molecular Life Sciences. 80, 11, 345.

Research output: Contribution to journal › Article › peer-review

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

Schoenmakers, D. H., Leferink, P. S., Vanderver, A., Bonkowsky, J. L., Krägeloh-Mann, I., Bernard, G., Bertini, E., Fatemi, A., Fogel, B. L., Wolf, N. I., Skwirut, D., Buck, A., Holberg, B., Saunier-Vivar, E. F., Rauner, R., Dekker, H., van Bokhoven, P., Stellingwerff, M. D., Berkhof, J. & van der Knaap, M. S., Dec 2023, In: BMC neurology. 23, 1, 305.

Research output: Contribution to journal › Article › peer-review

Open Access

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

Guang, S., O’Brien, B. M., Fine, A. S., Ying, M., Fatemi, A. & Nemeth, C. L., Dec 2023, In: Scientific reports. 13, 1, 13042.

Research output: Contribution to journal › Article › peer-review

Open Access

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

ADVANCE Study Group, Feb 2023, In: The Lancet Neurology. 22, 2, p. 127-136 10 p.

Research output: Contribution to journal › Article › peer-review

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

Planas-Serra, L., Launay, N., Goicoechea, L., Heron, B., Jou, C., Juliá-Palacios, N., Ruiz, M., Fourcade, S., Casasnovas, C., De La Torre, C., Gelot, A., Marsal, M., Loza-Alvarez, P., García-Cazorla, À., Fatemi, A., Ferrer, I., Portero-Otin, M., Area-Gómez, E. & Pujol, A., May 15 2023, In: Journal of Clinical Investigation. 133, 10, e162957.

Research output: Contribution to journal › Article › peer-review

Open Access

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

Nemeth, C. L., Gӧk, Ö., Tomlinson, S. N., Sharma, A., Moser, A. B., Kannan, S., Kannan, R. M. & Fatemi, A., Jan 2023, In: Neurotherapeutics. 20, 1, p. 272-283 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology

Amanat, M., Nemeth, C. L., Fine, A. S., Leung, D. G. & Fatemi, A., Nov 2022, In: Pharmaceutics. 14, 11, 2389.

Research output: Contribution to journal › Review article › peer-review

Open Access

Corrigendum to: Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform (Human Mutation, (2020), 41, 6, (1131-1137), 10.1002/humu.24008)

Helman, G., Takanohashi, A., Hagemann, T. L., Perng, M. D., Walkiewicz, M., Woidill, S., Sase, S., Cross, Z., Du, Y., Zhao, L., Waldman, A., Haake, B. C., Fatemi, A., Brenner, M., Sherbini, O., Messing, A., Vanderver, A. & Simons, C., Sep 2022, In: Human mutation. 43, 9, p. 1344 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

The SPARK Consortium, Sep 2022, In: Nature genetics. 54, 9, p. 1305-1319 15 p.

Research output: Contribution to journal › Article › peer-review

International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy: A Consensus-Based Approach

Engelen, M., Van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., Van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., Tritos, N. A., Halper, A., Lachmann, R. H., Davison, J., Raymond, G. V., Lund, T. C., Orchard, P. J., Kuehl, J. S., Lindemans, C. A. & Caruso, P. & 8 others, Turk, B., Moser, A. B., Vaz, F. M., Ferdinandusse, S., Kemp, S., Fatemi, A., Eichler, F. S. & Huffnagel, I. C., Nov 22 2022, In: Neurology. 99, 21, p. 940-951 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

Turk, B. R., Poisson, L. M., Nemeth, C. L., Goodman, J., Moser, A. B., Jones, R., Fatemi, A. & Singh, J., Nov 2022, In: JIMD Reports. 63, 6, p. 593-603 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment

Mallack, E. J., Van Haren, K. P., Torrey, A., Van De Stadt, S., Engelen, M., Raymond, G. V., Fatemi, A. & Eichler, F. S., Aug 2 2022, In: Neurology. 99, 5, p. E512-E520

Research output: Contribution to journal › Article › peer-review

Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression

Keller, J. L., Eloyan, A., Raymond, G. V., Fatemi, A. & Zackowski, K. M., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 308-317 10 p.

Research output: Contribution to journal › Article › peer-review

The pathogenesis of, and pharmacological treatment for, Canavan disease

Wei, H., Moffett, J. R., Amanat, M., Fatemi, A., Tsukamoto, T., Namboodiri, A. M. & Slusher, B. S., Sep 2022, In: Drug Discovery Today. 27, 9, p. 2467-2483 17 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Wearable sensors detect impaired gait and coordination in LBSL during remote assessments

Smith Fine, A., Kaufman, M., Goodman, J., Turk, B., Bastian, A., Lin, D., Fatemi, A. & Keller, J., Apr 2022, In: Annals of Clinical and Translational Neurology. 9, 4, p. 468-477 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A. & Fahey, M. C. & 57 others, Berry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature genetics. 53, 3, p. 412 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial

Amanat, M., Majmaa, A., Zarrabi, M., Nouri, M., Akbari, M. G., Moaiedi, A. R., Ghaemi, O., Zamani, F., Najafi, S., Badv, R. S., Vosough, M., Hamidieh, A. A., Salehi, M., Montazerlotfelahi, H., Tavasoli, A. R., Heidari, M., Mohebi, H., Fatemi, A., Garakani, A. & Ashrafi, M. R., Dec 2021, In: Stem Cell Research and Therapy. 12, 1, 439.

Research output: Contribution to journal › Article › peer-review

Open Access

Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids

Moser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A., Braverman, N. E., Steinberg, S. J. & Watkins, P. A., Oct 2021, In: Journal of cellular biochemistry. 122, 10, p. 1337-1349 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Kojic, M., Gawda, T., Gaik, M., Begg, A., Salerno-Kochan, A., Kurniawan, N. D., Jones, A., Drożdżyk, K., Kościelniak, A., Chramiec-Głąbik, A., Hediyeh-Zadeh, S., Kasherman, M., Shim, W. J., Sinniah, E., Genovesi, L. A., Abrahamsen, R. K., Fenger, C. D., Madsen, C. G., Cohen, J. S. & Fatemi, A. & 20 others, Stark, Z., Lunke, S., Lee, J., Hansen, J. K., Boxill, M. F., Keren, B., Marey, I., Saenz, M. S., Brown, K., Alexander, S. A., Mureev, S., Batzilla, A., Davis, M. J., Piper, M., Bodén, M., Burne, T. H. J., Palpant, N. J., Møller, R. S., Glatt, S. & Wainwright, B. J., Dec 1 2021, In: Nature communications. 12, 1, 2678.

Research output: Contribution to journal › Article › peer-review

Open Access

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O. & Alkuraya, F. S. & 83 others, Bassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., Van Haren, K., Ruzhnikov, M., Kurtzberg, J., Maegawa, G., Orchard, P. J., Lund, T. C., Raymond, G. V., Regelmann, M., Orsini, J. J. & Seeger, E. & 3 others, Kemp, S., Eichler, F. & Fatemi, A., May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 728-739 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M. & Gates, R. & 25 others, Gomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

Research output: Contribution to journal › Article › peer-review

Open Access

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

CAUSES Study & SPARK Consortium, Dec 1 2021, In: Genome Medicine. 13, 1, 63.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

The SPARK Consortium, Dec 1 2020, In: Nature communications. 11, 1, 5398.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Beliefs in vaccine as causes of autism among SPARK cohort caregivers

The SPARK Consortium, Feb 11 2020, In: Vaccine. 38, 7, p. 1794-1803 10 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Undiagnosed Diseases Network, Aug 6 2020, In: American journal of human genetics. 107, 2, p. 352-363 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

Expansion of the genetic landscape of ERLIN2-related disorders

Srivastava, S., D’Amore, A., Cohen, J. S., Swanson, L. C., Ricca, I., Pini, A., Fatemi, A., Ebrahimi-Fakhari, D. & Santorelli, F. M., Apr 1 2020, In: Annals of Clinical and Translational Neurology. 7, 4, p. 573-578 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome

Sripathy, S. R., Wang, Y., Moses, R. L., Fatemi, A., Batista, D. & Maher, B., Oct 2020, In: Stem Cell Research. 48, 102001.

Research output: Contribution to journal › Article › peer-review

Open Access

Glial restricted precursor delivery of dendrimer: N -acetylcysteine promotes migration and differentiation following transplant in mouse white matter injury model

Nemeth, C. L., Tomlinson, S. N., Sharma, R., Sharma, A., Kannan, S., Kannan, R. M. & Fatemi, A., Aug 14 2020, In: Nanoscale. 12, 30, p. 16063-16068 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

The SPARK Consortium, Dec 1 2020, In: Nature communications. 11, 1, 4932.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A. & Fahey, M. C. & 56 others, Berry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Oct 1 2020, In: Nature genetics. 52, 10, p. 1046-1056 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption

Nemeth, C. L., Tomlinson, S. N., Rosen, M., O'Brien, B. M., Larraza, O., Jain, M., Murray, C. F., Marx, J. S., Delannoy, M., Fine, A. S., Wu, D., Trifunovic, A. & Fatemi, A., Apr 2020, In: Experimental Neurology. 326, 113164.

Research output: Contribution to journal › Article › peer-review

Open Access

Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

The SPARK Consortium, Oct 1 2020, In: Journal of Autism and Developmental Disorders. 50, 10, p. 3679-3698 20 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Helman, G., Takanohashi, A., Hagemann, T. L., Perng, M. D., Walkiewicz, M., Woidill, S., Sase, S., Cross, Z., Du, Y., Zhao, L., Waldman, A., Haake, B. C., Fatemi, A., Brenner, M., Sherbini, O., Messing, A., Vanderver, A. & Simons, C., Jun 1 2020, In: Human mutation. 41, 6, p. 1131-1137 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

Turk, B. R., Theda, C., Fatemi, A. & Moser, A. B., Feb 1 2020, In: International Journal of Developmental Neuroscience. 80, 1, p. 52-72 21 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

2019

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

Casasnovas, C., Ruiz, M., Schlüter, A., Naudí, A., Fourcade, S., Veciana, M., Castañer, S., Albertí, A., Bargalló, N., Johnson, M., Raymond, G. V., Fatemi, A., Moser, A. B., Villarroya, F., Portero-Otín, M., Artuch, R., Pamplona, R. & Pujol, A., Oct 1 2019, In: Neurotherapeutics. 16, 4, p. 1167-1182 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In: American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journal › Article › peer-review

Design of a dendrimeric nanomedicine pl atform for the treatment of a neuro-degenerati ve disease, x-ald

GoK, O., Nemeth, C. L., Turk, B., Kambhampati, S. P., Zhang, F., Sharma, A., Kannan, S. J., Fatemi, A. & Kannan, R. M., 2019, Society for Biomaterials Annual Meeting and Exposition 2019: The Pinnacle of Biomaterials Innovation and Excellence - Transactions of the 42nd Annual Meeting. Society for Biomaterials, p. 539 1 p. (Transactions of the Annual Meeting of the Society for Biomaterials and the Annual International Biomaterials Symposium; vol. 40).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014))

Undiagnosed Diseases Network, Sep 5 2019, In: American journal of human genetics. 105, 3, p. 672-674 3 p.

Research output: Contribution to journal › Comment/debate › peer-review

Ali Fatemi

Research output

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