Donald H. Harter

UBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration

Akl C. Fahed, Barbara McDonough, Cynthia M. Gouvion, Kathy L. Newell et autres

We report a 5-generation family with phenotypically diverse neurodegenerative disease including relentlessly progressive choreoathetoid movements, dysarthria, dysphagia, spastic paralysis, and behavioral dementia in descendants of a 67-year-old woman with amyotrophic lateral sclerosis. Disease onset varied with gender, occurring in male children and …

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Treating melancholia at home

Christopher G. Goetz, Donald H. Harter

E.C. Seguin was one of the early, influential 19th-century neurologists who participated in the development of neurology as a specialty in the United States. Born in France, but raised from early childhood in the United States, Seguin published widely, developed a high-profile …

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Treating Melancholia in the Home: Theoretical Wisdom and Grim Reality in the Career and Life of EC Seguin (S57.003)

Christopher Goetz, Donald H. Harter

OBJECTIVE: Analyze the contributions of EC Seguin to the study of melancholia and its treatments with specific reference to his wife's depression, suicide and murder of their three children.

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CLIN-ONGOING CLINICAL TRIALS

M. Furuse, Shin‐Ichi Miyatake, Tomo Miyata, E. Yoritsune et autres

INTRODUCTION: Bevacizumab has been reported to be an effective treatment for symptomatic radiation necrosis and to decrease focal edema around areas of radiation necrosis.We report our preliminary results and ongoing clinical trial of bevacizumab treatment for radiation necrosis.METHODS: Thirteen patients with symptomatic …

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Charcot and Pasteur: Intersecting Orbits inFin de SiècleFrench Medicine

Christopher G. Goetz, Donald H. Harter

Charcot and Pasteur were scientific contemporaries, but their relationship has not been extensively studied. We analyzed available source documents from the Charcot Library, Bibliothèque Nationale, Institute Pasteur, and Pasteur Library. These documents demonstrate that in spite of geographical proximity, international and local …

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Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Marie Shaw, Barbara McDonough, Arthur B. Hodess, Donald H. Harter et autres

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Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis

Olavo M. Vasconcelos, Donald H. Harter, C. Elise Duffy, Barbara McDonough et autres

Hallervorden-Spatz syndrome (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. An atypical form of adult-onset HSS was observed in a 36-year-old man presenting with progressive dysarthria. Markedly dysarthric speech and a weak atrophic tongue associated with a …

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mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia

Neil Howell, Iwona Kubacka, Barbara McDonough, Arthur B. Hodess et autres

A patient was diagnosed in 1974 with the unique combination of Leber hereditary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire mitochondrial DNA (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried the …

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The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry

William Cowan, Donald H. Harter, Eric R. Kandel

One of the most significant developments in biology in the past half century was the emergence, in the late 1950s and early 1960s, of neuroscience as a distinct discipline. We review here factors that led to the convergence into a common discipline …

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Treatment of a high-grade pain syndrome in partial paralysis by series of paravasalic sympathetic nerve blockade

Casey Kohler, Donald H. Harter

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Isolation and functional expression of a mammalian prohormone processing enzyme, murine prohormone convertase 1.

Judith Körner, Jang‐Soo Chun, Donald H. Harter, Richard Axel

We have combined gene cloning with an assay for prohormone biosynthesis and processing in Xenopus oocytes to identify the genes that encode mammalian prohormone processing enzymes. The coinjection of RNA encoding murine prohormone convertase 1 (mPC1), a mammalian endoprotease, along with proopiomelanocortin …

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Neuropsychological status of asymptomatic individuals seropositive to HIV‐1

Donald H. Harter

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