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Items: 1 to 50 of 152

1.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schlüter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Jan 8. pii: 123959. doi: 10.1172/JCI123959. [Epub ahead of print]

2.

Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody.

Dubey D, Pittock SJ, Krecke KN, Morris PP, Sechi E, Zalewski NL, Weinshenker BG, Shosha E, Lucchinetti CF, Fryer JP, Lopez-Chiriboga AS, Chen JC, Jitprapaikulsan J, McKeon A, Gadoth A, Keegan BM, Tillema JM, Naddaf E, Patterson MC, Messacar K, Tyler KL, Flanagan EP.

JAMA Neurol. 2018 Dec 21. doi: 10.1001/jamaneurol.2018.4053. [Epub ahead of print]

PMID:
30575890
3.

Intraosseous epidermoid cyst of the skull: case study and radiological imaging considerations.

Twede JV, Patterson MC, Anderson ML.

Dermatol Online J. 2018 Jul 15;24(7). pii: 13030/qt5712f7zb.

4.

Miglustat in Niemann-Pick disease type C patients: a review.

Pineda M, Walterfang M, Patterson MC.

Orphanet J Rare Dis. 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. Review.

5.

Jeavons Syndrome: Clinical Features and Response to Treatment.

Smith KM, Youssef PE, Wirrell EC, Nickels KC, Payne ET, Britton JW, Shin C, Cascino GD, Patterson MC, Wong-Kisiel LC.

Pediatr Neurol. 2018 Sep;86:46-51. doi: 10.1016/j.pediatrneurol.2018.06.001. Epub 2018 Jul 10.

PMID:
30082241
6.

LGI1 and CASPR2 neurological autoimmunity in children.

López-Chiriboga AS, Klein C, Zekeridou A, McKeon A, Dubey D, Flanagan EP, Lennon VA, Tillema JM, Wirrell EC, Patterson MC, Gadoth A, Aaen JG, Brenton JN, Bui JD, Moen A, Otten C, Piquet A, Pittock SJ.

Ann Neurol. 2018 Sep;84(3):473-480. doi: 10.1002/ana.25310.

PMID:
30076629
7.

The More Things Change… Child Neurology in the Age of Next-Generation Sequencing.

Patterson MC.

Semin Pediatr Neurol. 2018 Jul;26:37-38. doi: 10.1016/j.spen.2017.06.003. Epub 2017 Jul 1. No abstract available.

PMID:
29961514
8.

De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.

Ryan CS, Fine AL, Cohen AL, Schiltz BM, Renaud DL, Wirrell EC, Patterson MC, Boczek NJ, Liu R, Babovic-Vuksanovic D, Chan DC, Payne ET.

J Child Neurol. 2018 Sep;33(10):651-658. doi: 10.1177/0883073818778203. Epub 2018 Jun 7.

PMID:
29877124
9.

The difference is more than floating: factors affecting breast cancer survivors' decisions to join and maintain participation in dragon boat teams and support groups.

McDonough MH, Patterson MC, Weisenbach BB, Ullrich-French S, Sabiston CM.

Disabil Rehabil. 2018 Mar 9:1-9. doi: 10.1080/09638288.2018.1449259. [Epub ahead of print]

PMID:
29521150
10.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

11.

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.

Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, Patterson MC, Albright RC, Yu AS, Torres VE; HALT Progression of Polycystic Kidney Disease Group Investigators, Harris PC.

Am J Kidney Dis. 2018 Aug;72(2):302-308. doi: 10.1053/j.ajkd.2017.11.015. Epub 2018 Feb 1.

PMID:
29395486
12.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.

Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinová V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M.

Front Neurol. 2018 Jan 15;8:711. doi: 10.3389/fneur.2017.00711. eCollection 2017.

13.

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.

Bonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, Watissée M, Schwierin B, Patterson MC.

World J Biol Psychiatry. 2017 Oct 9:1-10. doi: 10.1080/15622975.2017.1379610. [Epub ahead of print]

PMID:
28914127
14.

Formation of environmentally persistent free radicals (EPFRs) on ZnO at room temperature: Implications for the fundamental model of EPFR generation.

Patterson MC, DiTusa MF, McFerrin CA, Kurtz RL, Hall RW, Poliakoff ED, Sprunger PT.

Chem Phys Lett. 2017 Feb 16;670:5-10. doi: 10.1016/j.cplett.2016.12.061. Epub 2016 Dec 31.

15.

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S.

Front Endocrinol (Lausanne). 2017 May 19;8:107. doi: 10.3389/fendo.2017.00107. eCollection 2017.

16.

A Patient as Art: Andrew Wyeth's Portrayal of Christina Olson's Neurologic Disorder in Christina's World.

Patterson MC, Cole TB, Siegel E, Mackowiak PA.

J Child Neurol. 2017 Jun;32(7):647-649. doi: 10.1177/0883073817700603. Epub 2017 Mar 28.

PMID:
28349775
17.

Niemann-Pick disease, type C and Roscoe Brady.

Patterson MC, Walkley SU.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Review.

PMID:
27923544
18.

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):1-7. doi: 10.1016/j.ymgme.2016.10.010. Epub 2016 Nov 12.

PMID:
27866832
19.

Perspective: The rare must become common.

Patterson MC.

Nature. 2016 Sep 22;537(7621):S151. doi: 10.1038/537S151a. No abstract available.

PMID:
27652781
20.

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW.

Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep.

21.

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC.

Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct.

22.

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

Zschocke J, Baumgartner MR, Morava E, Patterson MC, Peters V, Rahman S.

J Inherit Metab Dis. 2016 May;39(3):327-329. doi: 10.1007/s10545-016-9931-3. Epub 2016 Apr 1. No abstract available.

PMID:
27038029
23.

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ.

Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6.

PMID:
26739101
24.

Acute Encephalopathy With Biphasic Seizures and Late Restricted Diffusion.

Hoffman EM, Ruff MW, Patterson MC.

Pediatr Neurol. 2016 Feb;55:74-5. doi: 10.1016/j.pediatrneurol.2015.10.010. Epub 2015 Nov 17. No abstract available.

PMID:
26712250
25.

Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction.

Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M.

JAMA Neurol. 2016 Feb;73(2):237-8. doi: 10.1001/jamaneurol.2015.2976. No abstract available.

PMID:
26640963
26.

Too Old for a Diaper! A Child With Diaper Changing-Induced Seizures.

Feyissa AM, Patterson MC, Wong-Kisiel LC.

Pediatr Neurol. 2016 Jan;54:91-2. doi: 10.1016/j.pediatrneurol.2015.09.007. Epub 2015 Sep 21. No abstract available.

PMID:
26493735
27.

Probing environmentally significant surface radicals: Crystallographic and temperature dependent adsorption of phenol on ZnO.

Thibodeaux CA, Poliakoff ED, Kizilkaya O, Patterson MC, DiTusa MF, Kurtz RL, Sprunger PT.

Chem Phys Lett. 2015 Oct 1;638:56-60.

28.

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.

Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators.

Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.

29.

Neurological aspects of human glycosylation disorders.

Freeze HH, Eklund EA, Ng BG, Patterson MC.

Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2. Review.

30.

Electronic signatures of a model pollutant-particle system: chemisorbed phenol on TiO₂(110).

Patterson MC, Thibodeaux CA, Kizilkaya O, Kurtz RL, Poliakoff ED, Sprunger PT.

Langmuir. 2015 Apr 7;31(13):3869-75. doi: 10.1021/acs.langmuir.5b00030. Epub 2015 Mar 23.

31.

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.

32.

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review.

33.

Case definition and classification of leukodystrophies and leukoencephalopathies.

Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Review.

34.

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.

PMID:
25577286
35.

Editorial comment: Ataxia, ophthalmoplegia, and impairment of consciousness in a 19 month-old American boy.

Patterson MC.

Semin Pediatr Neurol. 2014 Jun;21(2):144. doi: 10.1016/j.spen.2014.06.007. Epub 2014 Jun 17. No abstract available.

PMID:
25149950
36.

Editorial comment: Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia and hallucinations in an adolescent male.

Patterson MC.

Semin Pediatr Neurol. 2014 Jun;21(2):109-10. doi: 10.1016/j.spen.2014.06.006. Epub 2014 Jun 17. No abstract available.

PMID:
25149940
37.

A 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression.

Kenney D, Wickremasinghe AC, Ameenuddin N, Patterson MC.

Semin Pediatr Neurol. 2014 Jun;21(2):88-9. doi: 10.1016/j.spen.2014.04.008. Epub 2014 Apr 13. No abstract available.

PMID:
25149932
38.

Brave New World.

Patterson MC.

Child Neurol Open. 2014 Aug 26;1(1):2329048X14542399. doi: 10.1177/2329048X14542399. eCollection 2014 Jul-Sep. No abstract available.

39.

EPFR Formation from Phenol adsorption on Al2O3 and TiO2: EPR and EELS studies.

Patterson MC, Keilbart ND, Kiruri LW, Thibodeaux CA, Lomnicki S, Kurtz RL, Poliakoff ED, Dellinger B, Sprunger PT.

Chem Phys. 2013 Aug 30;422:277-282.

40.

Epidural hematoma in a patient on pegylated-L-asparginase therapy.

Qubty WF, Mrelashvili A, Patterson MC.

J Child Neurol. 2015 Apr;30(5):636. doi: 10.1177/0883073813512900. Epub 2014 Jan 5. No abstract available.

PMID:
24396128
41.

High-throughput Toroidal Grating Beamline for Photoelectron Spectroscopy at CAMD.

Kizilkaya O, Jiles RW, Patterson MC, Thibodeaux CA, Poliakoff ED, Sprunger PT, Kurtz RL, Morikawa E.

J Phys Conf Ser. 2014;493. pii: 012024.

42.

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA.

J Inherit Metab Dis. 2014 Jan;37(1):93-101. doi: 10.1007/s10545-013-9626-y. Epub 2013 Jun 21.

43.

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.

Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.

44.

Gangliosidoses.

Patterson MC.

Handb Clin Neurol. 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. Review.

PMID:
23622392
45.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012.

46.

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.

Baruth JM, Wall CA, Patterson MC, Port JD.

Autism Res. 2013 Apr;6(2):119-33. doi: 10.1002/aur.1273. Epub 2013 Feb 21. Review.

PMID:
23436782
47.

Views of recently first-certified US child neurologists on their residency training.

Gilbert DL, Patterson MC, Pugh JA, Ridel KR, Reynolds TQ, Valencia I.

J Child Neurol. 2013 Mar;28(3):332-9. doi: 10.1177/0883073812473644. Epub 2013 Jan 28.

PMID:
23358629
48.

Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient.

Loar RW, Patterson MC, O'Leary PW, Driscoll DJ, Johnson JN.

Pediatr Transplant. 2013 Mar;17(2):E67-70. doi: 10.1111/petr.12039. Epub 2013 Jan 17.

PMID:
23331314
49.

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M.

Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73.

50.

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.

Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC.

Orphanet J Rare Dis. 2012 Oct 6;7:76. doi: 10.1186/1750-1172-7-76. Review.

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