Professor, Neurology-Massachusetts General Hospital, Harvard Medical School
Neurology
Dr. Katherine B. Sims, MD
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Katherine Sims practices Neurology. She researched medicine at Columbia University College of Physicians & Surgeons. Columbia University College of Physicians & Surgeons is a top medical college. Columbia University College of Physicians & Surgeons is ranked 8 in research and 52 in primary care medicine Katherine Sims is a published physician. She has 88 publications published. The most current publication "Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis."
Publications
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
- Cerebrovascular involvement in fabry Disease: current status of knowledge.
- Diagnosis and management of mitochondrial Disease: a consensus statement from the Mitochondrial Medicine Society.
- Panel-based genetic diagnostic testing for inherited eye Diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
- Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic Diseases.
- Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
- New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize its Manifestation in Infants (Wolman Disease).
- Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
- Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors.
- Practice patterns of mitochondrial Disease physicians in North America. Part 1: Diagnostic and clinical challenges.
- Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.
- Targeted exome sequencing of suspected mitochondrial disorders.
- Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
- Norrie Disease: Extraocular clinical manifestations in 56 patients.
- A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System.
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.
- Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Early diagnosis of peripheral nervous system involvement in Fabry Disease and treatment of neuropathic pain: the report of an expert panel.
- Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline.
- A plasma signature of human mitochondrial Disease revealed through metabolic profiling of spent media from cultured muscle cells.
- Mass spectrometry-based protein profiling to determine the cause of lysosomal storage Diseases of unknown etiology.
- Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.
- Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia.
- Successful reinstitution of agalsidase beta therapy in Fabry Disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
- Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking.
- Erlenmeyer flasking of a child's bones: a diagnostic puzzle.
- Risperidone-induced psychosis and depression in a child with a mitochondrial disorder.
- Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?
- The remediation of clumsiness. I: An evaluation of Laszlo''s kinaesthetic approach.
- Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher Disease.
- Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.
- Cognitive function in adults aging with fabry Disease: a case-control feasibility study using telephone-based assessments.
- Co-segregation of Norrie Disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
- Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
- SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
- Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.
- Myocardial blood flow and oxygen consumption in patients with Friedreich's Ataxia prior to the onset of cardiomyopathy.
- Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
- Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and ot...
- Norrie Disease gene is distinct from the monoamine oxidase genes.
- Stroke in Fabry Disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.
- Agalsidase beta treatment is associated with improved quality of life in patients with Fabry Disease: findings from the Fabry Registry.
- Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.
- Fabry Disease: guidelines for the evaluation and management of multi-organ system involvement.
- Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
- CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
- The Norrie Disease gene maps to a 150 kb region on chromosome Xp11.3.
- Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical asp...
- Mutations in the Norrie Disease gene.
- Quality of life assessment in adults with type 1 Gaucher Disease.
- A mutation in the Norrie Disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
- Improvement of bone Disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher Disease: results of a 48-month longitudinal c...
- Females with Fabry Disease frequently have major organ involvement: lessons from the Fabry Registry.
- Norrie Disease in a family with a manifesting female carrier.
- Responsiveness to levodopa in epsilon-sarcoglycan deletions.
- Monoamine oxidase deficiency in males with an X chromosome deletion.
- Twenty years of audiology in a patient with Norrie Disease.
- Clinical and biochemical manifestations of hyaluronidase deficiency.
- Cardiovascular manifestations of Fabry Disease: relationships between left ventricular hypertrophy, Disease severity, and alpha-galactosidase A activity.
- Audiologic features of Norrie Disease.
- Mutations in the gene DNAJC5 cause autosomal dominant Kufs Disease in a proportion of cases: study of the Parry family and 8 other families.
- Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
- Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie Disease locus an...
- Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
- Norrie Disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
- Diseases of adenosine triphosphate synthesis in children.
- Peripheral retinopathy in offspring of carriers of Norrie Disease gene mutations. Possible transplacental effect of abnormal Norrin.
- Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.
- Norrie Disease gene: characterization of deletions and possible function.
- Isolation and characterization of a candidate gene for Norrie Disease.
- Plasma amine oxidase activities in Norrie Disease patients with an X-chromosomal deletion affecting monoamine oxidase.
- Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy.
- Physical fine-mapping of a deletion spanning the Norrie gene.
- Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
- Screen for MAOA mutations in target human groups.
- Von Hippel-Lindau Disease: gene to bedside.
- Neuroradiologic findings in fucosidosis, a rare lysosomal storage Disease.
- Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie Disease: preliminary report.
- Marked amine and amine metabolite changes in Norrie Disease patients with an X-chromosomal deletion affecting monoamine oxidase.
- Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
- Characterization of a YAC containing part or all of the Norrie Disease locus.
- Powering the Immune System: Mitochondria in Immune Function and Deficiency.
- Vasoactive intestinal polypeptide (VIP) in mouse and rat brain: an immunocytochemical study.
- Microtubule-associated protein 2 (MAP 2) immunoreactivity in human fetal neocortex.
- Structural features of human monoamine oxidase A elucidated from cDNA and peptide sequences.
- Molecular genetics of the monoamine oxidases.
Schools
Columbia University College Of Physicians and Surgeons
Mass General Hospital
Procedures Preformed
- EEG (Electroencephalogram)
Conditions Treated
- Ataxia
- Convulsions
- Fabry's Disease
- Headache
- View All
Doctors Specialties
- Pediatric Neurology
- Neurology
Accepted Insurances
Education
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Massachusetts General Hospital -
Columbia University College of Physicians & Surgeons
Hospital
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Brigham and Women's Hospital -
Massachusetts General Hospital
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