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Showing 1 to 12 of 20 entries
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Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.

AJNR. American journal of neuroradiology

Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A.
PMID: 27231226
AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26.

BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal, 2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are currently being developed. Because quantitative descriptions of the natural course of brain volume loss are needed to...

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.

Molecular genetics and metabolism reports

Eisengart JB, Jarnes J, Ahmed A, Nestrasil I, Ziegler R, Delaney K, Shapiro E, Whitley C.
PMID: 28983455
Mol Genet Metab Rep. 2017 Sep 27;13:64-68. doi: 10.1016/j.ymgmr.2017.07.012. eCollection 2017 Dec.

Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is...

Corrigendum: Multi-modal Brain MRI in Subjects with PD and iRBD.

Frontiers in neuroscience

Mangia S, Svatkova A, Mascali D, Nissi MJ, Burton PC, Bednarik P, Auerbach EJ, Giove F, Eberly LE, Howell MJ, Nestrasil I, Tuite PJ, Michaeli S.
PMID: 29973865
Front Neurosci. 2018 Jun 26;12:446. doi: 10.3389/fnins.2018.00446. eCollection 2018.

[This corrects the article on p. 709 in vol. 11, PMID: 29311789.].

Author Correction: Open-access quantitative MRI data of the spinal cord and reproducibility across participants, sites and manufacturers.

Scientific data

Cohen-Adad J, Alonso-Ortiz E, Abramovic M, Arneitz C, Atcheson N, Barlow L, Barry RL, Barth M, Battiston M, Büchel C, Budde M, Callot V, Combes AJE, De Leener B, Descoteaux M, de Sousa PL, Dostál M, Doyon J, Dvorak A, Eippert F, Epperson KR, Epperson KS, Freund P, Finsterbusch J, Foias A, Fratini M, Fukunaga I, Gandini Wheeler-Kingshott CAM, Germani G, Gilbert G, Giove F, Gros C, Grussu F, Hagiwara A, Henry PG, Horák T, Hori M, Joers J, Kamiya K, Karbasforoushan H, Keřkovský M, Khatibi A, Kim JW, Kinany N, Kitzler HH, Kolind S, Kong Y, Kudlička P, Kuntke P, Kurniawan ND, Kusmia S, Labounek R, Laganà MM, Laule C, Law CS, Lenglet C, Leutritz T, Liu Y, Llufriu S, Mackey S, Martinez-Heras E, Mattera L, Nestrasil I, O'Grady KP, Papinutto N, Papp D, Pareto D, Parrish TB, Pichiecchio A, Prados F, Rovira À, Ruitenberg MJ, Samson RS, Savini G, Seif M, Seifert AC, Smith AK, Smith SA, Smith ZA, Solana E, Suzuki Y, Tackley G, Tinnermann A, Valošek J, Van De Ville D, Yiannakas MC, Weber Ii KA, Weiskopf N, Wise RG, Wyss PO, Xu J.
PMID: 34508107
Sci Data. 2021 Sep 10;8(1):242. doi: 10.1038/s41597-021-01026-2.

No abstract available.

Previously unrecognized behavioral phenotype in Gaucher disease type 3.

Neurology. Genetics

Abdelwahab M, Potegal M, Shapiro EG, Nestrasil I.
PMID: 28634598
Neurol Genet. 2017 May 23;3(3):e158. doi: 10.1212/NXG.0000000000000158. eCollection 2017 Jun.

OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics.METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled...

Multi-modal Brain MRI in Subjects with PD and iRBD.

Frontiers in neuroscience

Mangia S, Svatkova A, Mascali D, Nissi MJ, Burton PC, Bednarik P, Auerbach EJ, Giove F, Eberly LE, Howell MJ, Nestrasil I, Tuite PJ, Michaeli S.
PMID: 29311789
Front Neurosci. 2017 Dec 19;11:709. doi: 10.3389/fnins.2017.00709. eCollection 2017.

Idiopathic rapid eye movement sleep behavior disorder (iRBD) is a condition that often evolves into Parkinson's disease (PD). Therefore, by monitoring iRBD it is possible to track the neurodegeneration of individuals who may progress to PD. Here we aimed...

Blind Visualization of Task-Related Networks From Visual Oddball Simultaneous EEG-fMRI Data: Spectral or Spatiospectral Model?.

Frontiers in neurology

Labounek R, Wu Z, Bridwell DA, Brázdil M, Jan J, Nestrašil I.
PMID: 33981283
Front Neurol. 2021 Apr 26;12:644874. doi: 10.3389/fneur.2021.644874. eCollection 2021.

Various disease conditions can alter EEG event-related responses and fMRI-BOLD signals. We hypothesized that event-related responses and their clinical alterations are imprinted in the EEG spectral domain as event-related (spatio)spectral patterns (ERSPat). We tested four EEG-fMRI fusion models utilizing...

Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Molecular genetics and metabolism

Wijburg FA, Heap F, Rust S, de Ruijter J, Tump E, Marchal JP, Nestrasil I, Shapiro E, Jones SA, Alexanderian D.
PMID: 34600820
Mol Genet Metab. 2021 Dec;134(4):317-322. doi: 10.1016/j.ymgme.2021.09.003. Epub 2021 Sep 14.

INTRODUCTION: Currently, there is no effective therapy for mucopolysaccharidosis IIIA (MPS IIIA). Intravenously-administered enzyme replacement therapies, while effective in other forms of MPS without neurological involvement, have not been successful in patients with MPS IIIA, as they are unable...

Tractography dissection variability: What happens when 42 groups dissect 14 white matter bundles on the same dataset?.

NeuroImage

Schilling KG, Rheault F, Petit L, Hansen CB, Nath V, Yeh FC, Girard G, Barakovic M, Rafael-Patino J, Yu T, Fischi-Gomez E, Pizzolato M, Ocampo-Pineda M, Schiavi S, Canales-Rodríguez EJ, Daducci A, Granziera C, Innocenti G, Thiran JP, Mancini L, Wastling S, Cocozza S, Petracca M, Pontillo G, Mancini M, Vos SB, Vakharia VN, Duncan JS, Melero H, Manzanedo L, Sanz-Morales E, Peña-Melián Á, Calamante F, Attyé A, Cabeen RP, Korobova L, Toga AW, Vijayakumari AA, Parker D, Verma R, Radwan A, Sunaert S, Emsell L, De Luca A, Leemans A, Bajada CJ, Haroon H, Azadbakht H, Chamberland M, Genc S, Tax CMW, Yeh PH, Srikanchana R, Mcknight CD, Yang JY, Chen J, Kelly CE, Yeh CH, Cochereau J, Maller JJ, Welton T, Almairac F, Seunarine KK, Clark CA, Zhang F, Makris N, Golby A, Rathi Y, O'Donnell LJ, Xia Y, Aydogan DB, Shi Y, Fernandes FG, Raemaekers M, Warrington S, Michielse S, Ramírez-Manzanares A, Concha L, Aranda R, Meraz MR, Lerma-Usabiaga G, Roitman L, Fekonja LS, Calarco N, Joseph M, Nakua H, Voineskos AN, Karan P, Grenier G, Legarreta JH, Adluru N, Nair VA, Prabhakaran V, Alexander AL, Kamagata K, Saito Y, Uchida W, Andica C, Abe M, Bayrak RG, Wheeler-Kingshott CAMG, D'Angelo E, Palesi F, Savini G, Rolandi N, Guevara P, Houenou J, López-López N, Mangin JF, Poupon C, Román C, Vázquez A, Maffei C, Arantes M, Andrade JP, Silva SM, Calhoun VD, Caverzasi E, Sacco S, Lauricella M, Pestilli F, Bullock D, Zhan Y, Brignoni-Perez E, Lebel C, Reynolds JE, Nestrasil I, Labounek R, Lenglet C, Paulson A, Aulicka S, Heilbronner SR, Heuer K, Chandio BQ, Guaje J, Tang W, Garyfallidis E, Raja R, Anderson AW, Landman BA, Descoteaux M.
PMID: 34433094
Neuroimage. 2021 Nov;243:118502. doi: 10.1016/j.neuroimage.2021.118502. Epub 2021 Aug 22.

White matter bundle segmentation using diffusion MRI fiber tractography has become the method of choice to identify white matter fiber pathways in vivo in human brains. However, like other analyses of complex data, there is considerable variability in segmentation...

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Májovská J, Hennig A, Nestrasil I, Schneider SA, Jahnová H, Vaněčková M, Magner M, Dušek P.
PMID: 34800199
Neurol Sci. 2021 Nov 20; doi: 10.1007/s10072-021-05757-3. Epub 2021 Nov 20.

PURPOSE: Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in the HEXA gene. The aim of...

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

Molecular genetics and metabolism

Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I.
PMID: 35012890
Mol Genet Metab. 2022 Jan 07; doi: 10.1016/j.ymgme.2022.01.001. Epub 2022 Jan 07.

OBJECTIVE: To assess our hypothesis that brain macrostructure is different in individuals with mucopolysaccharidosis type I (MPS I) and healthy controls (HC), we conducted a comprehensive multicenter study using a uniform quantitative magnetic resonance imaging (qMRI) protocol, with analyses...

Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Molecular genetics and metabolism

Wijburg FA, Heap F, Rust S, de Ruijter J, Tump E, Marchal JP, Nestrasil I, Shapiro E, Jones SA, Alexanderian D.
PMID: 34600820
Mol Genet Metab. 2021 Dec;134(4):317-322. doi: 10.1016/j.ymgme.2021.09.003. Epub 2021 Sep 14.

INTRODUCTION: Currently, there is no effective therapy for mucopolysaccharidosis IIIA (MPS IIIA). Intravenously-administered enzyme replacement therapies, while effective in other forms of MPS without neurological involvement, have not been successful in patients with MPS IIIA, as they are unable...

Showing 1 to 12 of 20 entries