Research Output

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Comment/debate
2020

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

Ruggieri, A., Naumenko, S., Smith, M. A., Iannibelli, E., Blasevich, F., Bragato, C., Gibertini, S., Barton, K., Vorgerd, M., Marcus, K., Wang, P., Maggi, L., Mantegazza, R., Dowling, J. J., Kley, R. A., Mora, M. & Minassian, B. A., Aug 1 2020, In : Acta Neuropathologica. 140, 2, p. 231-235 5 p.

Research output: Contribution to journalComment/debate

Open Access
2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2019), 21, 4, (837-849), 10.1038/s41436-018-0268-1)

Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C. & 66 others, Cristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1897-1898 2 p.

Research output: Contribution to journalComment/debate

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
3 Scopus citations
2018

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) DOI: 10.1371/journal.pone.0198154)

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., Nov 2018, In : PloS one. 13, 11, e0207077.

Research output: Contribution to journalComment/debate

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

2 Scopus citations
2016

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

6 Scopus citations

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

14 Scopus citations

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

1 Scopus citations
2015

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

22 Scopus citations

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., Apr 21 2015, In : Neurology. 84, 16, p. 1714-1716 3 p.

Research output: Contribution to journalComment/debate

5 Scopus citations

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

5 Scopus citations
2014

Corticosteroid therapy in regressive autism: Preliminary findings from a retrospective study

Golla, S. & Sweeney, J. A., May 15 2014, In : BMC Medicine. 12, 1, 79.

Research output: Contribution to journalComment/debate

3 Scopus citations

Lafora's odyssey reaches a mysterious port of call

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

Research output: Contribution to journalComment/debate

2013

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

1 Scopus citations
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

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

2007

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

2005

Feline spinal muscular atrophy

Iannaccone, S. T., Mar 1 2005, In : Pediatric Research. 57, 3, p. 322-323 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Sickle cell trait is a risk factor for early stroke

Golomb, M. R., Dowling, M. M. & Roach, E. S., Nov 1 2005, In : Archives of neurology. 62, 11, p. 1778-1782 5 p.

Research output: Contribution to journalComment/debate

14 Scopus citations
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 2004, In : Nature genetics. 36, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access