Camilo Toro

Camilo Toro

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Camilo Toro

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Botulinum toxin and occupational therapy for Writer's cramp.

Toxicon 2019 Nov 24;169:12-17. Epub 2019 Jul 24.

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.toxicon.2019.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754272PMC
November 2019

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.

Ann Neurol 2019 Nov 11;86(5):695-703. Epub 2019 Sep 11.

Section of Infections of the Nervous System, Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1002/ana.25588DOI Listing
November 2019

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

Birth Defects Res 2019 Nov 18;111(19):1584-1588. Epub 2019 Oct 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdr2.1609DOI Listing
November 2019

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Genet Med 2019 08 31;21(8):1772-1780. Epub 2019 Jan 31.

Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-019-0434-0
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http://dx.doi.org/10.1038/s41436-019-0434-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106PMC
August 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Emerging molecular mechanisms of vascular dementia.

Curr Opin Hematol 2019 05;26(3):199-206

Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, California.

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http://dx.doi.org/10.1097/MOH.0000000000000502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986812PMC
May 2019

The neuropsychological phenotype of Chediak-Higashi disease.

Orphanet J Rare Dis 2019 05 6;14(1):101. Epub 2019 May 6.

National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s13023-019-1049-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503440PMC
May 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurol Neuroimmunol Neuroinflamm 2019 01 12;6(1):e523. Epub 2018 Dec 12.

National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/NXI.0000000000000523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490PMC
January 2019

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Neurol Genet 2018 Jun 8;4(3):e240. Epub 2018 Jun 8.

Department of Neurology (N.M.S., M.D.G.), University of California San Francisco, CA; Laboratory of Cancer Biology and Genetics (J.J.D., K.H.K.), Center for Cancer Research, National Cancer Institute, National Institutes of Health; NIH Undiagnosed Diseases Program (C.G., R.G., M.C.V.M., W.A.G., C.T.), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Department of Molecular Medicine (M.J.Y., E.A.W., L.J.N.), Center on Aging, The Scripps Research Institute, Jupiter, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994703PMC
June 2018

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Dev Med Child Neurol 2017 12 1;59(12):1307-1311. Epub 2017 Aug 1.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/dmcn.13509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685901PMC
December 2017

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

Hum Mutat 2017 12 20;38(12):1751-1760. Epub 2017 Sep 20.

Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia.

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http://doi.wiley.com/10.1002/humu.23336
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http://dx.doi.org/10.1002/humu.23336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679302PMC
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

Peripheral nervous system manifestations of Chediak-Higashi disease.

Muscle Nerve 2017 03 16;55(3):359-365. Epub 2016 Dec 16.

Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mus.25259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243934PMC
March 2017

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

PLoS Genet 2017 02 3;13(2):e1006481. Epub 2017 Feb 3.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291374PMC
February 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000003622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584077PMC
February 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Phenotypic evolution of UNC80 loss of function.

Am J Med Genet A 2016 12 11;170(12):3106-3114. Epub 2016 Aug 11.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671762PMC
December 2016

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

PLoS One 2016 18;11(3):e0151429. Epub 2016 Mar 18.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151429PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798776PMC
August 2016

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Mol Genet Metab 2016 Apr 22;117(4):393-400. Epub 2016 Jan 22.

NIH Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560125PMC
April 2016

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2016 04 4;86(14):1320-1328. Epub 2016 Mar 4.

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000002551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826336PMC
April 2016

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

J Med Genet 2016 Mar 14;53(3):180-9. Epub 2015 Dec 14.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303PMC
March 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

Neurology 2015 Jan 19;84(3):226-30. Epub 2014 Dec 19.

From the Department of Child Neurology (N.I.W., T.E.M.A., M.S.v.d.K.), VU University Medical Center, Amsterdam; the Neuroscience Campus Amsterdam (N.I.W., T.E.M.A., M.S.v.d.K.), the Netherlands; the NIH Undiagnosed Diseases Program (C.T.), National Institutes of Health, Bethesda, MD; the NYU Multiple Sclerosis Center (I.K.), Department of Neurology, NYU School of Medicine, New York; the Department of Radiology (K.A.L.), Hospital Kuala Lumpur, Malaysia; the Department of Neurology (R.L.), Royal Children's Hospital; Murdoch Children's Research Institute (R.L.); the Department of Pediatrics (R.L.), University of Melbourne, Australia; the Department of Neurology (A.P., A.V.), Children's National Medical Center, Washington, DC; the Institute for Molecular Bioscience (C.S., R.J.T.), University of Queensland, St Lucia, Queensland, Australia; the Departments of Integrative Systems Biology and Pediatrics (R.J.T.), George Washington University School of Medicine, Washington, DC; Illumina Inc. (R.J.T.), San Diego, CA; and the Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335995PMC
January 2015

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Genet Med 2014 Oct 1;16(10):741-50. Epub 2014 May 1.

National Institutes of Health (NIH) Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001PMC
October 2014

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Ann Clin Transl Neurol 2014 Jun;1(6):379-389

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA ; NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, MD, USA ; Departments of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars- Sinai Medical Center, Los Angeles, CA, USA.

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http://doi.wiley.com/10.1002/acn3.64
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http://dx.doi.org/10.1002/acn3.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078876PMC
June 2014

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Neuromuscul Disord 2014 Mar 11;24(3):241-4. Epub 2013 Dec 11.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, United Kingdom; Department of Neurology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle NE1 4LP, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988992PMC
March 2014

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases.

J Immunol 2014 Mar 7;192(6):2551-63. Epub 2014 Feb 7.

Neuroimmunological Diseases Unit, Neuroimmunology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892;

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http://dx.doi.org/10.4049/jimmunol.1302884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045479PMC
March 2014

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.

Pediatr Neurol 2013 Nov 19;49(5):351-4. Epub 2013 Aug 19.

Department of Neurology, University of California, San Francisco, California; Department of Pediatrics, University of California, San Francisco, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994130039
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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.021DOI Listing
November 2013

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.

Front Med 2013 Sep 15;7(3):389-94. Epub 2013 Jul 15.

Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, Xi'an, 710032, China.

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http://dx.doi.org/10.1007/s11684-013-0281-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763934PMC
September 2013

Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.

BMJ Case Rep 2013 May 8;2013. Epub 2013 May 8.

Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2013-009592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669838PMC
May 2013

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Mov Disord 2013 Feb;28(2):127-9

Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/mds.25386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581862PMC
February 2013

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Hum Mutat 2012 Apr 24;33(4):593-8. Epub 2012 Feb 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://dx.doi.org/10.1002/humu.22034DOI Listing
April 2012

Detecting false-positive signals in exome sequencing.

Hum Mutat 2012 Apr 5;33(4):609-13. Epub 2012 Mar 5.

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.22033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302978PMC
April 2012

Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremor.

Mov Disord 2011 Sep 28;26(11):2073-80. Epub 2011 Jun 28.

Human Motor Control Section, Medical Neurology Branch, NINDS/NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.23808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117681PMC
September 2011

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Neuromuscul Disord 2011 May 25;21(5):353-5. Epub 2011 Feb 25.

NIH Undiagnosed Diseases Program, NIH Office of Rare Disease, Research and NHGRI, Bethesda, MD 20892-3705, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085694PMC
May 2011