Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation von Serajee, Fatema J., MBBS, Huq, Ahm M., MD

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Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation von Ueda, Keisuke, Serajee, Fatema, Huq, Ahm M

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A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions von Ueda, Keisuke, Serajee, Fatema, Huq, Ahm M

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Posterior reversible encephalopathy syndrome and autoimmunity von Li, Yang, Song, Junmin, Huq, Ahm M, Timilsina, Suraj, Gershwin, M Eric

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O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling von Selvan, Nithya, George, Stephan, Serajee, Fatema J., Shaw, Marie, Hobson, Lynne, Kalscheuer, Vera, Prasad, Nripesh, Levy, Shawn E., Taylor, Juliet, Aftimos, Salim, Schwartz, Charles E., Huq, Ahm M., Gecz, Jozef, Wells, Lance

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Tourette syndrome is associated with recurrent exonic copy number variants von SUNDARAM, Senthil K, HUQ, Ahm M, WILSON, Benjamin J, CHUGANI, Harry T

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Sibling response to initial antiepileptic medication predicts treatment success von Ueda, Keisuke, Serajee, Fatema, Rajlich, Jan, Taraman, Sharief, Steckling, Lindsey, Huq, Ahm M.

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Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss von Set, Kallol K, Weber, Amanda R B, Serajee, Fatema J, Huq, Ahm M

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Expanding the neurodevelopmental phenotype of PURA syndrome von Lee, Bo Hoon, Reijnders, Margot R. F., Abubakare, Oluwatobi, Tuttle, Emily, Lape, Brynn, Minks, Kelly Q., Stodgell, Christopher, Bennetto, Loisa, Kwon, Jennifer, Fong, Chin‐To, Gripp, Karen W., Marsh, Eric D., Smith, Wendy E., Huq, Ahm M., Coury, Stephanie A., Tan, Wen‐Hann, Solis, Orestes, Mehta, Rupal I., Leventer, Richard J., Baralle, Diana, Hunt, David, Paciorkowski, Alex R.

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Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder von Sundaram, Senthil K., Huq, Ahm M., Sun, Zhen, Yu, Wu, Bennett, Lindsey, Wilson, Benjamin J., Behen, Michael E., Chugani, Harry T.

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Exome sequencing and diffusion tensor imaging in developmental disabilities von Sundaram, Senthil, Huq, A.H.M., Hsia, Tammy, Chugani, Harry

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SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism von Sundaram, Senthil K., MD, Chugani, Harry T., MD, Tiwari, Vijay N., MD, PhD, Huq, A.H.M.M., MD, PhD

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A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions von Ueda, Keisuke, Serajee, Fatema, Huq, Ahm M

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Association of Reelin gene polymorphisms with autism von Serajee, Fatema J., Zhong, Hailang, Mahbubul Huq, A.H.M.

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Abnormal Language Pathway in Children With Angelman Syndrome von Wilson, Benjamin J., BA, Sundaram, Senthil K., MD, Huq, A.H.M., MD, PhD, Jeong, Jeong-Won, PhD, Halverson, Stacey R., MS, Behen, Michael E., PhD, Bui, Duy Q., BS, Chugani, Harry T., MD

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Association of Y Chromosome Haplotypes With Autism von Serajee, Fatema J., Mahbubul Huq, A.H.M.

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Episodic Ataxia Type 1 (K‐channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype von Set, Kallol K., Ghosh, Debabrata, Huq, A.H.M., Luat, Aimee F.

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Novel FDG-PET Findings in Anti-NMDA Receptor Encephalitis: A Case Based Report von Maqbool, Mohsin, Oleske, Deanna A., Huq, A. H. M., Salman, Bassel A., Khodabakhsh, Kevin, Chugani, Harry T.

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Homozygous Myotonic Dystrophy With Craniosynostosis von Cerghet, Mirela, Tapos, Daniela, Serajee, Fatema J., Mahbubul Huq, A. H. M.

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No association between single nucleotide polymorphisms in DLX6 and piccolo genes at 7q21-q22 and autism von Nabi, Rafiqun, Zhong, Hailang, Serajee, Fatema J, Huq, AHM Mahbubul

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