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Items: 1 to 50 of 225

1.

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M.

Cold Spring Harb Mol Case Stud. 2019 Aug 6. pii: mcs.a003715. doi: 10.1101/mcs.a003715. [Epub ahead of print]

2.

Exploring mTOR inhibition as treatment for mitochondrial disease.

Sage-Schwaede A, Engelstad K, Salazar R, Curcio A, Khandji A, Garvin JH Jr, De Vivo DC.

Ann Clin Transl Neurol. 2019 Aug 6. doi: 10.1002/acn3.50846. [Epub ahead of print]

3.

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.

Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W; CS2 and CS12 Study Groups.

Muscle Nerve. 2019 Jul 12. doi: 10.1002/mus.26633. [Epub ahead of print]

PMID:
31298747
4.

Neurofilament as a potential biomarker for spinal muscular atrophy.

Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ.

Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May.

5.

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC; ISIS-396443-CS2/ISIS-396443-CS12 Study Groups.

Neurology. 2019 May 21;92(21):e2492-e2506. doi: 10.1212/WNL.0000000000007527. Epub 2019 Apr 24.

6.

Revised upper limb module for spinal muscular atrophy: 12 month changes.

Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E; iSMAC Consortium Group.

Muscle Nerve. 2019 Apr;59(4):426-430. doi: 10.1002/mus.26419. Epub 2019 Feb 7.

PMID:
30677148
7.

Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study.

Dunaway Young S, Montes J, Kramer SS, Podwika B, Rao AK, De Vivo DC.

J Neuromuscul Dis. 2019;6(1):109-117. doi: 10.3233/JND-180342.

PMID:
30562906
8.

Precious SMA natural history data: A benchmark to measure future treatment successes.

Darras BT, De Vivo DC.

Neurology. 2018 Aug 21;91(8):337-339. doi: 10.1212/WNL.0000000000006026. Epub 2018 Jul 25. No abstract available.

PMID:
30045956
9.

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E.

PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018.

10.

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, De Vivo DC.

Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515.

PMID:
29924070
11.

Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

Glanzman AM, Mazzone ES, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J.

J Neuromuscul Dis. 2018;5(2):159-166. doi: 10.3233/JND-180301.

12.

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, Young SD, LaMarca NM, De Vivo DC, Caggana M, Chung WK.

Genet Med. 2018 Jun;20(6):608-613. doi: 10.1038/gim.2017.152. Epub 2017 Oct 12.

PMID:
29758563
13.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

14.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

15.

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

Kurt YG, Çoku J, Akman HO, Naini A, Lu J, Engelstad K, Hirano M, De Vivo DC, DiMauro S.

Child Neurol Open. 2016 Apr 4;3:2329048X15627937. doi: 10.1177/2329048X15627937. eCollection 2016 Jan-Dec.

16.

Paroxysmal eye-head movements in Glut1 deficiency syndrome.

Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC.

Neurology. 2017 Apr 25;88(17):1666-1673. doi: 10.1212/WNL.0000000000003867. Epub 2017 Mar 24.

17.

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9.

18.

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

Tang M, Gao G, Rueda CB, Yu H, Thibodeaux DN, Awano T, Engelstad KM, Sanchez-Quintero MJ, Yang H, Li F, Li H, Su Q, Shetler KE, Jones L, Seo R, McConathy J, Hillman EM, Noebels JL, De Vivo DC, Monani UR.

Nat Commun. 2017 Jan 20;8:14152. doi: 10.1038/ncomms14152.

19.

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.

Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM.

Lancet. 2016 Dec 17;388(10063):3017-3026. doi: 10.1016/S0140-6736(16)31408-8. Epub 2016 Dec 7.

PMID:
27939059
20.

Gait assessment with solesound instrumented footwear in spinal muscular atrophy.

Montes J, Zanotto D, Dunaway Young S, Salazar R, De Vivo DC, Agrawal S.

Muscle Nerve. 2017 Aug;56(2):230-236. doi: 10.1002/mus.25484. Epub 2017 Feb 15.

PMID:
27863443
21.

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

Montes J, Garber CE, Kramer SS, Montgomery MJ, Dunaway S, Kamil-Rosenberg S, Carr B, Cruz R, Strauss NE, Sproule D, De Vivo DC.

J Neuromuscul Dis. 2015 Oct 7;2(4):463-470.

22.

Developmental milestones in type I spinal muscular atrophy.

De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, Young SD, Salazar R, Quigley J, Pera MC, Antonaci L, Lapenta L, Glanzman AM, Tiziano D, Muntoni F, Darras BT, De Vivo DC, Finkel R, Mercuri E.

Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5.

23.

Six-minute walk test is reliable and valid in spinal muscular atrophy.

Dunaway Young S, Montes J, Kramer SS, Marra J, Salazar R, Cruz R, Chiriboga CA, Garber CE, De Vivo DC.

Muscle Nerve. 2016 Nov;54(5):836-842. doi: 10.1002/mus.25120. Epub 2016 May 13.

PMID:
27015431
24.

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.

Francis JS, Wojtas I, Markov V, Gray SJ, McCown TJ, Samulski RJ, Bilaniuk LT, Wang DJ, De Vivo DC, Janson CG, Leone P.

Neurobiol Dis. 2016 Dec;96:323-334. doi: 10.1016/j.nbd.2016.10.001. Epub 2016 Oct 4.

25.

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E.

Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6.

PMID:
27701745
26.

Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

Blumenschine M, Montes J, Rao AK, Engelstad K, De Vivo DC.

J Child Neurol. 2016 Nov;31(13):1483-1488. Epub 2016 Aug 10.

PMID:
27511993
27.

Maternal Calorie Restriction Causing Uteroplacental Insufficiency Differentially Affects Mammalian Placental Glucose and Leucine Transport Molecular Mechanisms.

Ganguly A, Touma M, Thamotharan S, De Vivo DC, Devaskar SU.

Endocrinology. 2016 Oct;157(10):4041-4054. Epub 2016 Aug 5.

28.

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH.

Mol Genet Metab. 2016 May;118(1):28-34. doi: 10.1016/j.ymgme.2016.03.004. Epub 2016 Mar 8.

29.

Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE(-/-) Mice.

Sarrazy V, Viaud M, Westerterp M, Ivanov S, Giorgetti-Peraldi S, Guinamard R, Gautier EL, Thorp EB, De Vivo DC, Yvan-Charvet L.

Circ Res. 2016 Apr 1;118(7):1062-77. doi: 10.1161/CIRCRESAHA.115.307599. Epub 2016 Feb 29.

30.

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM.

Neurology. 2016 Mar 8;86(10):890-7. doi: 10.1212/WNL.0000000000002445. Epub 2016 Feb 10.

31.

Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.

Akman CI, Yu J, Alter A, Engelstad K, De Vivo DC.

J Pediatr. 2016 Apr;171:220-6. doi: 10.1016/j.jpeds.2015.12.030. Epub 2016 Jan 22.

PMID:
26811264
32.

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.

Fryer RH, Bain JM, De Vivo DC.

Pediatr Neurol. 2016 Mar;56:59-61. doi: 10.1016/j.pediatrneurol.2015.12.010. Epub 2015 Dec 19.

33.

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC.

Neuromuscul Disord. 2016 Feb;26(2):126-31. doi: 10.1016/j.nmd.2015.10.006. Epub 2015 Dec 3.

34.

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E, Tang M, Kleiner G, Engelstad K, DiMauro S, Quinzii CM, De Vivo DC.

JIMD Rep. 2016;29:47-52. Epub 2015 Nov 29.

35.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

36.

Old measures and new scores in spinal muscular atrophy patients.

Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

Muscle Nerve. 2015 Sep;52(3):435-7. doi: 10.1002/mus.24748. Epub 2015 Jul 24.

PMID:
26111847
37.

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Montes J, Glanzman AM, Mazzone ES, Martens WB, Dunaway S, Pasternak A, Riley SO, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon GI, Darras BT, Pane M, Mercuri E, Mcdermott MP; Pediatric Neuromuscular Clinical Research Network, Muscle Study Group, SMA Europe.

Muscle Nerve. 2015 Dec;52(6):942-7. doi: 10.1002/mus.24670. Epub 2015 Oct 10.

PMID:
25846132
38.

GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration.

Winkler EA, Nishida Y, Sagare AP, Rege SV, Bell RD, Perlmutter D, Sengillo JD, Hillman S, Kong P, Nelson AR, Sullivan JS, Zhao Z, Meiselman HJ, Wendy RB, Soto J, Abel ED, Makshanoff J, Zuniga E, De Vivo DC, Zlokovic BV.

Nat Neurosci. 2015 Apr;18(4):521-530. doi: 10.1038/nn.3966. Epub 2015 Mar 2.

39.

Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.

Akman CI, Provenzano F, Wang D, Engelstad K, Hinton V, Yu J, Tikofsky R, Ichese M, De Vivo DC.

Epilepsy Res. 2015 Feb;110:206-15. doi: 10.1016/j.eplepsyres.2014.11.007. Epub 2014 Dec 11.

PMID:
25616474
40.

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA.

Muscle Nerve. 2015 May;51(5):767-72. doi: 10.1002/mus.24528. Epub 2015 Feb 17.

PMID:
25430424
41.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC.

Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

42.

Reply: To PMID 23893312.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Muscle Nerve. 2014 Sep;50(3):458-9. doi: 10.1002/mus.24317. Epub 2014 Aug 5. No abstract available.

PMID:
24935909
43.

Long-term clinical course of Glut1 deficiency syndrome.

Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC.

J Child Neurol. 2015 Feb;30(2):160-9. doi: 10.1177/0883073814531822. Epub 2014 Apr 30.

PMID:
24789115
45.

Performance of the timed "up & go" test in spinal muscular atrophy.

Dunaway S, Montes J, Garber CE, Carr B, Kramer SS, Kamil-Rosenberg S, Strauss N, Sproule D, De Vivo DC.

Muscle Nerve. 2014 Aug;50(2):273-7. doi: 10.1002/mus.24153. Epub 2014 May 12.

PMID:
24375426
46.

A Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy: Methods and Baseline Characteristics.

Montes J, Garber CE, Kramer SS, Montgomery MJ, Dunaway S, Kamil-Rosenberg S, Carr B, Strauss NE, Sproule D, De Vivo DC.

J Neuromuscul Dis. 2014;1(2):151-161.

PMID:
27858768
47.

Leg muscle function and fatigue during walking in spinal muscular atrophy type 3.

Montes J, Dunaway S, Garber CE, Chiriboga CA, De Vivo DC, Rao AK.

Muscle Nerve. 2014 Jul;50(1):34-9. doi: 10.1002/mus.24081. Epub 2014 May 5.

PMID:
24122959
48.

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Muscle Nerve. 2014 May;49(5):636-44. doi: 10.1002/mus.23967.

49.

Weakness and fatigue in diverse neuromuscular diseases.

Montes J, Blumenschine M, Dunaway S, Alter AS, Engelstad K, Rao AK, Chiriboga CA, Sproule DM, De Vivo DC.

J Child Neurol. 2013 Oct;28(10):1277-83. doi: 10.1177/0883073813493663. Epub 2013 Jul 11.

PMID:
23847297
50.

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK.

JAMA Neurol. 2013 Jun;70(6):788-91. doi: 10.1001/jamaneurol.2013.247.

PMID:
23699708

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