Publications by authors named "Florian Eichler"

69Publications

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Neurol Genet 2020 Aug 14;6(4):e486. Epub 2020 Jul 14.

Departments of Neurology (A.L.M., Y.L., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston; and the Department of Chemistry (J.B.K.), Institute of Biochemistry, University of Cologne, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371372PMC
August 2020

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

Muscle Nerve 2020 Aug 1. Epub 2020 Aug 1.

Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.27039DOI Listing
August 2020

Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.

Neurology 2020 06 1;94(24):e2499-e2507. Epub 2020 Jun 1.

From the Department of Neurology (E.J.M., P.L.M., R.S., F.S.E.) and Department of Radiology (P.A.C.), Division of Neuroradiology, Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatrics (E.J.M.), Division of Child Neurology, Weill Cornell Medical College, New York-Presbyterian Hospital, NY; and Department of Pediatric Neurology (S.v.d.S., M.E.), Emma Children's Hospital, Amsterdam University Medical Center, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455338PMC
June 2020

The Changing Face of Adrenoleukodystrophy.

Endocr Rev 2020 08;41(4)

Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1210/endrev/bnaa013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286618PMC
August 2020

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Neurology 2020 02 21;94(7):e705-e717. Epub 2020 Jan 21.

From the Ataxia Unit (C.D.S., J.D.S.), Center for Rare Neurological Diseases (C.D.S., P.J., E.H., F.E.), Cognitive Behavioral Neurology Unit (J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology (C.D.S., J.D.S.), and Sleep Division, Department of Neurology (K.S.), Massachusetts General Hospital, and Jenks Vestibular Physiology Laboratory (D.B., R.L.), Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000008959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176300PMC
February 2020

The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.

Curr Treat Options Neurol 2019 Nov 25;21(12):61. Epub 2019 Nov 25.

Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1007/s11940-019-0605-yDOI Listing
November 2019

Clinical myopathy in patients with nephropathic cystinosis.

Muscle Nerve 2020 01 24;61(1):74-80. Epub 2019 Oct 24.

Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital, Massachusetts.

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http://dx.doi.org/10.1002/mus.26726DOI Listing
January 2020

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

N Engl J Med 2019 10 11;381(15):1422-1433. Epub 2019 Sep 11.

From the Lowy Medical Research Institute (M.L.G., K.E., R.F., J.T., S.G., S.H.-P., Y.I., L. Scheppke, M.I.D., M.K., M. Friedlander), University of California, San Diego (M.W., M.K.H., M. Baldini, M.G.B., C.M.M.), Scripps Research Institute (S.H.-P., Y.I., M.K., M. Friedlander), and Scripps Clinic Medical Group (M. Friedlander), La Jolla, and Point Loma Nazarene University, San Diego (M.I.D.) - all in California; Moran Eye Center, University of Utah, Salt Lake City (L. Sauer, B.J.H., P.S.B.); Moorfields Eye Hospital (T.F.C.H., C.E.) and University College London Institute of Ophthalmology (S.M.W., M. Fruttiger), London; Columbia University, New York (C.C., T.N., R.A.); Walter and Eliza Hall Institute of Medical Research, Parkville, VIC (R.B., M. Bahlo), Royal Victorian Eye and Ear Hospital (M.O.) and University of Melbourne Centre for Eye Research (R.G.), Melbourne, VIC, and the Save Sight Institute, University of Sydney, Sydney (M.G.) - all in Australia; and Massachusetts General Hospital, Boston (F.E.).

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http://www.nejm.org/doi/10.1056/NEJMoa1815111
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http://dx.doi.org/10.1056/NEJMoa1815111DOI Listing
October 2019

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.

Neurology 2019 04 22;92(15):e1698-e1708. Epub 2019 Mar 22.

From the Department of Radiology, Division of Neuroradiology (A.P.L., P.A.C.), Department of Neurology (E.J.M., R.A.-B., A.L., P.L.M., F.S.E.), and Department of Biostatistics (D.H.), Harvard Medical School, Massachusetts General Hospital, Boston; and Department of Pediatrics, Division of Child Neurology (E.J.M.), Weill Cornell Medical College, New York-Presbyterian Hospital, New York.

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http://dx.doi.org/10.1212/WNL.0000000000007294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511088PMC
April 2019

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Neurology 2019 01 9;92(4):e359-e370. Epub 2019 Jan 9.

From the Department of Neurology (V.F., W.D., K.W., R.A.-B., A.L.O., F.E.), Biostatistics Center, Department of Medicine (E.A.M.), and Department of Pathology (Neuropathology) (A.L.O.), Massachusetts General Hospital, Harvard Medical School, Boston; Clinical Chemistry (S.S., T.H.), University Hospital Zurich, Switzerland; and University of Massachusetts Medical School (P.N., D.M.-Y., R.B.), Worcester.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345118PMC
January 2019

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Mol Genet Metab 2018 09 15;125(1-2):118-126. Epub 2018 Jun 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183011
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http://dx.doi.org/10.1016/j.ymgme.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557438PMC
September 2018

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

J Clin Lipidol 2018 Sep - Oct;12(5):1169-1178. Epub 2018 Jun 22.

Boston Heart Diagnostics, Framingham, MA, USA; Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA; The Dyslipidemia Foundation, Natick, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2018.06.008DOI Listing
October 2019

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2018 07 26;41(4):647-656. Epub 2018 Feb 26.

Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, ACC 708, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1007/s10545-018-0152-9DOI Listing
July 2018

Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2018 02;378(5):490-491

Dana–Farber Cancer Institute, Boston, MA

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http://dx.doi.org/10.1056/NEJMc1715427DOI Listing
February 2018

Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.

N Engl J Med 2017 Dec;377(24):2376-2385

From the Departments of Neurology (F.S.E., K.J.S., A.L.H.) and Radiology (O.R.), Massachusetts General Hospital, the Departments of Neurology (F.S.E., K.J.S., A.L.H.), Ophthalmology (D.M.C.), and Radiology (O.R.), Harvard Medical School, and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary (D.M.C.) - all in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1706109DOI Listing
December 2017

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.

Ann Neurol 2017 Nov 11;82(5):813-827. Epub 2017 Nov 11.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/ana.25085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725816PMC
November 2017

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.

From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).

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http://dx.doi.org/10.1056/NEJMoa1700554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708849PMC
October 2017

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Mol Genet Metab 2017 11 1;122(3):130-133. Epub 2017 Sep 1.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173048
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http://dx.doi.org/10.1016/j.ymgme.2017.08.012DOI Listing
November 2017

Inherited or acquired metabolic disorders.

Handb Clin Neurol 2016 ;135:603-636

Department of Neurology, Houston Methodist Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1016/B978-0-444-53485-9.00029-5DOI Listing
February 2017

Metachromatic Leukodystrophy: An Assessment of Disease Burden.

J Child Neurol 2016 11 7;31(13):1457-1463. Epub 2016 Jul 7.

Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1177/0883073816656401DOI Listing
November 2016

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Neurology 2016 06;86(24):e248

From the Department of Neurology (S.S.M., F.S.E.), Massachusetts General Hospital and Harvard Medical School, Boston; Center for Rare Neurological Diseases (F.S.E.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000002764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909551PMC
June 2016

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Brain 2016 06 5;139(Pt 6):1666-72. Epub 2016 May 5.

2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1093/brain/aww066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892751PMC
June 2016

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.

J Neurosci 2015 Oct;35(40):13713-9

Neuroscience Center, Massachusetts General Hospital, Boston, Massachusetts 02114; and Department of Neurology, Harvard Medical School, Boston, Massachusetts 02114

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http://dx.doi.org/10.1523/JNEUROSCI.1403-15.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595622PMC
October 2015

Brain endothelial dysfunction in cerebral adrenoleukodystrophy.

Brain 2015 Nov 15;138(Pt 11):3206-20. Epub 2015 Sep 15.

1 Department of Neurology, Massachusetts General Hospital, Boston, MA, USA 2 Center for Rare Neurological Diseases, Massachusetts General Hospital, Boston, MA, USA.

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http://brain.oxfordjournals.org/content/brain/early/2015/09/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731416PMC
November 2015

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Appl Clin Genet 2015 2;8:109-21. Epub 2015 May 2.

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria.

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http://www.dovepress.com/the-genetic-landscape-of-x-linked-a
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http://dx.doi.org/10.2147/TACG.S49590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427263PMC
May 2015

The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.

J Gen Intern Med 2015 Aug 7;30(8):1193-203. Epub 2015 May 7.

Department of Ambulatory Care and Community Medicine, Lausanne University Hospital, Lausanne, Switzerland,

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http://dx.doi.org/10.1007/s11606-015-3354-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510224PMC
August 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.

Mol Ther 2015 May 16;23(5):824-834. Epub 2015 Jan 16.

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address:

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http://dx.doi.org/10.1038/mt.2015.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427888PMC
May 2015

Altered sphingoid base profiles in type 1 compared to type 2 diabetes.

Lipids Health Dis 2014 Oct 11;13:161. Epub 2014 Oct 11.

MGH Neuroscience Center, Department of Neurology, Harvard Medical School, 55 Fruit Street ACC 708, Boston, MA 02114, USA.

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http://dx.doi.org/10.1186/1476-511X-13-161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271467PMC
October 2014

Natural history and biomarkers in hereditary sensory neuropathy type 1.

Muscle Nerve 2015 Apr 11;51(4):489-95. Epub 2015 Feb 11.

Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA.

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http://doi.wiley.com/10.1002/mus.24336
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http://dx.doi.org/10.1002/mus.24336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484799PMC
April 2015

Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.

Neuropediatrics 2014 Jun 23;45(3):169-74. Epub 2014 Jan 23.

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1055/s-0033-1364179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157669PMC
June 2014

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

JIMD Rep 2012 16;3:79-82. Epub 2011 Sep 16.

Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, ACC 708, Boston, MA, 02114, USA,

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http://link.springer.com/10.1007/8904_2011_65
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http://dx.doi.org/10.1007/8904_2011_65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509860PMC
February 2013

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.

Brain 2012 Sep;135(Pt 9):2676-83

Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/brain/aws206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437030PMC
September 2012

Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.

Neuropediatrics 2012 Feb 19;43(1):48-52. Epub 2012 Mar 19.

Department of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1055/s-0032-1307455DOI Listing
February 2012

Natural history of infantile G(M2) gangliosidosis.

Pediatrics 2011 Nov 24;128(5):e1233-41. Epub 2011 Oct 24.

Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1542/peds.2011-0078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208966PMC
November 2011

Childhood leukodystrophies: a clinical perspective.

Expert Rev Neurother 2011 Oct;11(10):1485-96

Children's Hospital University Medical Center, Hamburg, Germany.

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http://dx.doi.org/10.1586/ern.11.135DOI Listing
October 2011

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

J Child Neurol 2010 May 28;25(5):572-80. Epub 2009 Dec 28.

Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA.

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http://dx.doi.org/10.1177/0883073809341669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301611PMC
May 2010

Leukodystrophies: classification, diagnosis, and treatment.

Neurologist 2009 Nov;15(6):319-28

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1097/NRL.0b013e3181b287c8DOI Listing
November 2009

Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.

N Engl J Med 2009 Jan;360(2):171-81

Neurology Service, Massachusetts General Hospital, USA.

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http://dx.doi.org/10.1056/NEJMcpc0807820DOI Listing
January 2009

Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.

Ann N Y Acad Sci 2008 Oct;1142:266-309

Ataxia Unit, Cognitive/Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1196/annals.1444.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753195PMC
October 2008

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Ann Neurol 2008 Jun;63(6):729-42

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1002/ana.21391DOI Listing
June 2008

Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis.

Pediatr Neurol 2007 Nov;37(5):317-23

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940700334
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http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.018DOI Listing
November 2007

Immune response in leukodystrophies.

Pediatr Neurol 2007 Oct;37(4):235-44

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.011DOI Listing
October 2007

Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.

Arch Neurol 2007 May;64(5):659-64

Department of Neurology, Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1001/archneur.64.5.659DOI Listing
May 2007

Imaging cerebral gene transcripts in live animals.

J Neurosci 2007 Jan;27(3):713-22

Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.4660-06.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647966PMC
January 2007

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

J Child Neurol 2006 Sep;21(9):801-5

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.

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http://journals.sagepub.com/doi/10.1177/08830738060210090601
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http://dx.doi.org/10.1177/08830738060210090601DOI Listing
September 2006

Cerebral amyloid angiopathy and lobar intracerebral hemorrhage.

Arch Neurol 2006 Jan;63(1):148-51

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1001/archneur.63.1.148DOI Listing
January 2006

Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.

Radiology 2002 Oct;225(1):245-52

F. M. Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1148/radiol.2251011040DOI Listing
October 2002

Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.

AJNR Am J Neuroradiol 2002 May;23(5):833-7

Department of Neurogenetics, The Johns Hopkins University, Baltimore, MD, USA.

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May 2002