Research Output 1974 2019

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Comment/debate
2019

Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013))

Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Jalal Ahmed, H. M., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Apr 4 2019, In : American Journal of Human Genetics. 104, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Medical Genetics
Names
2018
1 Citation (Scopus)

Episodic Ophthalmoplegia and Headache With Cranial Nerve III Enhancement on MRI

Hurd, A. & Sabo, T. M., Nov 1 2018, In : Headache. 58, 10, p. 1685-1686 2 p.

Research output: Contribution to journalComment/debate

Ophthalmoplegic Migraine
Oculomotor Nerve
Ophthalmoplegia
Neuroimaging
Headache

Erratum: Correction: Sustained AAV9-mediated expression of a non-self protein in the CNS of non-human primates after immunomodulation (PloS one (2018) 13 6 (e0198154))

Ramsingh, A. I., Gray, S. J., Reilly, A., Koday, M., Bratt, D., Koday, M. T., Munson, P., Murnane, R., Smedley, J., Hu, Y., Messer, A. & Fuller, D. H., Jan 1 2018, In : PLoS One. 13, 11, p. e0207077

Research output: Contribution to journalComment/debate

immunomodulation
Immunomodulation
Primates
Proteins
proteins
2016
4 Citations (Scopus)

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

De Gusmao, C. M., Kok, F., Casella, E. B. & Waugh, J. L., Feb 1 2016, In : Neurology: Genetics. 2, 1, e40.

Research output: Contribution to journalComment/debate

Chorea
Dystonia
Ataxia
Neurology
Stroke
Guidelines
Pediatrics
corrigendum
Giant Axonal Neuropathy
National Institute of Neurological Disorders and Stroke
Autonomic Nervous System
Histology
National Institute of Child Health and Human Development (U.S.)
10 Citations (Scopus)

FHF1 (FGF12) epileptic encephalopathy

Al-Mehmadi, S., Splitt, M., Ramesh, V., DeBrosse, S., Dessoffy, K., Xia, F., Yang, Y., Rosenfeld, J. A., Cossette, P., Michaud, J. L., Hamdan, F. F., Campeau, P. M. & Minassian, B. A., Jan 1 2016, In : Neurology: Genetics. 2, 6, e115.

Research output: Contribution to journalComment/debate

Brain Diseases
1 Citation (Scopus)

Timing of Gene Therapy Interventions: The Earlier, the Better

Gray, S. J., Jun 1 2016, In : Molecular Therapy. 24, 6, p. 1017-1018 2 p.

Research output: Contribution to journalComment/debate

Genetic Therapy
2015
20 Citations (Scopus)

Clinical/scientific notes

Nascimento, F. A., Borlot, F., Cossette, P., Minassian, B. A. & Andrade, D. M., Dec 1 2015, In : Neurology: Genetics. 1, 4, e28.

Research output: Contribution to journalComment/debate

3 Citations (Scopus)

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy

Munteanu, I., Ramachandran, N., Ruggieri, A., Awaya, T., Nishino, I. & Minassian, B. A., Jan 1 2015, In : Neurology. 84, 16, p. 1714-1716 3 p.

Research output: Contribution to journalComment/debate

X-Linked Genetic Diseases
Lysosomal Storage Diseases
Vacuolar Proton-Translocating ATPases
Muscular Diseases
Young Adult
3 Citations (Scopus)

Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis

Liba, Z., Muthaffar, O., Tang, J., Minassian, B., Halliday, W., Branson, H. & Ann Yeh, E., Apr 1 2015, In : Neurology: Neuroimmunology and NeuroInflammation. 2, 2, p. e69

Research output: Contribution to journalComment/debate

Encephalitis
Immunotherapy
2014

Lafora's odyssey reaches a mysterious port of call

Minassian, B. A., Jan 1 2014, In : Brain. 137, 3, p. 646-648 3 p.

Research output: Contribution to journalComment/debate

Odyssey
Animals
2013
1 Citation (Scopus)

Erratum: Progress in gene therapy for neurological disorders (Nature Reviews Neurology (2013) 9 (277-291) DOI: 10.1038/nrneurol.2013.56)

Simonato, M., Bennett, J., Boulis, N. M., Castro, M. G., Fink, D. J., Goins, W. F., Gray, S. J., Lowenstein, P. R., Vandenberghe, L. H., Wilson, T. J., Wolfe, J. H. & Glorioso, J. C., Jun 1 2013, In : Nature Reviews Neurology. 9, 6, 1 p.

Research output: Contribution to journalComment/debate

Neurology
Nervous System Diseases
Genetic Therapy
2010

Erratum: Corrigendum to "Directed Evolution of a Novel Adeno-associated Virus (AAV) Vector That Crosses the Seizure-compromised Blood-Brain Barrier (BBB)" (Molecular Therapy (2010) 18 (570-578) 10.1038/mt.2009.292)

Gray, S. J., Blake, B. L., Criswell, H. E., Nicolson, S. C., Samulski, R. J. & McCown, T. J., May 1 2010, In : Molecular Therapy. 18, 5, 1 p.

Research output: Contribution to journalComment/debate

Dependovirus
Blood-Brain Barrier
Seizures
Therapeutics
corrigendum

Erratum to Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification [Cell, 137, (2009), 235-246]

Ramachandran, N., Munteanu, I., Wang, P., Aubourg, P., Rilstone, J. J., Israelian, N., Naranian, T., Paroutis, P., Guo, R., Ren, Z. P., Nishino, I., Chabrol, B., Pellissier, J. F., Minetti, C., Udd, B., Fardeau, M., Tailor, C. S., Mahuran, D. J., Kissel, J. T., Kalimo, H. & 4 others, Levy, N., Manolson, M. F., Ackerley, C. A. & Minassian, B. A., Sep 1 2010, In : Cell. 142, 6, 1 p.

Research output: Contribution to journalComment/debate

2008

Erratam: Fine-mapping the gene for x-linked myopathy with excessive autophagy (Neurology (2008) 70 (2233-2240))

Munteanu, I., Ramachandran, N., Mnatzakanian, G. N., Villanova, M., Fardeau, M., Levy, N., Kissel, J. T. & Minassian, B. A., Sep 16 2008, In : Neurology. 71, 12, 1 p.

Research output: Contribution to journalComment/debate

Chromosome Mapping
Autophagy
Muscular Diseases
Neurology
2007
Methyl-CpG-Binding Protein 2
Rett Syndrome
Medical Genetics
Epigenomics
Cohort Studies

Erratum: Sequence variants within exon 1 of MECP2 occur in females with mental retardation. (American Journal of Medical Genetics; Part B: Neuropsychiatric Genetics (2007) 144B, (355-360))

Harvey, C. G., Menon, S. D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A. K., Mnatzakanian, G. N., Alfred, S. E., Guo, R., Scherer, S. W., Kennedy, J. L., Roberts, W., Srivastava, A. K., Minassian, B. A. & Vincent, J. B., Oct 5 2007, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 144, 7, 1 p.

Research output: Contribution to journalComment/debate

Medical Genetics
Intellectual Disability
Exons
2004

Erratum: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (Native Genetics (2004) 36 (339-341))

Mnatzakanian, G. N., Lohi, H., Munteanu, I., Alfred, S. E., Yamada, T., MacLeod, P. J. M., Jones, J. R., Scherer, S. W., Schanen, N. C., Friez, M. J., Vincent, J. B. & Minassian, B. A., May 1 2004, In : Nature Genetics. 36, 5, 1 p.

Research output: Contribution to journalComment/debate