نتایج جستجو برای: spatz syndrome

تعداد نتایج: 622004  

پایان نامه :دانشگاه آزاد اسلامی واحد علوم پزشکی تهران - دانشکده پزشکی 1390

مقدمه : impingement syndrome یکی از بیماریهای شایع است که با درد شانه ومحدودیت حرکت در مفصل شانه همراه می باشد. با توجه به اهمیت این موضوع و لزوم دستیابی به روشی مطمئن جهت درمان مبتلایان به این بیماری، در این مطالعه به بررسی میزان اثربخشی استفاده از glyceril trinitrate بصورت موضعی در درمان مبتلایان بهimpingement syndrome پرداختیم. مواد و روشها: در این مطالعه که از نوع مداخله ای-تحلیلی میباشد60...

Journal: :The Turkish journal of pediatrics 2015
Mahya Sultan Tosun Vildan Ertekin

Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her...

2010
Qiang Liu Justin Trotter Juan Zhang Melinda M. Peters Hua Cheng Jianxin Bao Xianlin Han Edwin J. Weeber Guojun Bu

Qiang Liu,1 Justin Trotter,6 Juan Zhang,1 Melinda M. Peters,6 Hua Cheng,2 Jianxin Bao,3 Xianlin Han,2 Edwin J. Weeber,6 and Guojun Bu1,4,5 Departments of 1Pediatrics, 2Medicine, 3Otolaryngology, and 4Cell Biology and Physiology, 5Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, Missouri 63110, and 6Department of Molecular Pharmacology and Physiology, ...

Journal: :Molecular genetics and metabolism 2017
Penelope Hogarth Manju A Kurian Allison Gregory Barbara Csányi Tamara Zagustin Tomasz Kmiec Patricia Wood Angelika Klucken Natale Scalise Francesca Sofia Thomas Klopstock Giovanna Zorzi Nardo Nardocci Susan J Hayflick

a Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA b Department of Neurology, Oregon Health & Science University, Portland, USA c Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK d Department of Physiatry, Children's Healthcare of Atlanta, GA, USA e Department of Child Neurology, The Children's...

2016
Raquel Quimas Molina da Costa Rogério Paysano Marrocos Marco Antonio Araujo Leite Fabio Henrique Gobbi Porto

The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to tr...

Journal: :Human molecular genetics 2005
Yien-Ming Kuo Jacque L Duncan Shawn K Westaway Haidong Yang George Nune Eugene Yujun Xu Susan J Hayflick Jane Gitschier

Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis. As pathology in the human condition is limited to the central nervous system, specifically the retina and globus pallidus, we have generated a mouse knock-out of the orthologous...

Journal: :Folia neuropathologica 2010
Dorota Dziewulska Izabela Domitrz Anna Domzał-Stryga

In humans overlap between various neurodegenerative disorders is a well known phenomenon. We reported a case of a 77-year-old woman with parkinsonism, dystonia, psychiatric symptoms and progressing dementia misdiagnosed at the age of 51 years as Parkinson's disease. Histopathological examination of the patient's brain performed 26 years after the disease onset revealed numerous axonal spheroids...

Journal: :Mechanisms of Development 2009
Fiona Bangs Yili Yin Robert Paton Alan Prescott John James Megan Davey Paul Whitley Grigory Genikhovich Ulrich Technau James Briscoe Dave Burt Cheryll Tickle

Marc A. Willaredt, Kerstin Hasenpusch-Theil, Humphrey Gardner, Igor Kitanovic, Vera Hirschfeld-Warneken, Christian Gojak, Karin Gorgas, C. Lulu Bradford, Joachim Spatz, Stefan Woelfl, Thomas Theil, Kerry L. Tucker 1 Interdisciplinary Center for Neurosciences, University of Heidelberg, Heidelberg, Germany 2 Dept. of Anatomy, University of Heidelberg, Heidelberg, Germany 3 Centres for Neuroscienc...

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