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Genetic Disorders

Citations 81-90 of 396 total displayed.

Past content (since Jan 1998):

Observations
Mosaicism for Trisomy 21 in a Patient With Young-Onset Dementia: A Case Report and Brief Literature Review
John M. Ringman; P. Nagesh Rao; Po H. Lu; Stephen Cederbaum
Arch Neurol 2008; 65: 412-415. [Abstract] [Full text] [PDF]  

Original Contributions
Increased Frequency of Learning Disability in Patients With Primary Progressive Aphasia and Their First-Degree Relatives
Emily Rogalski; Nancy Johnson; Sandra Weintraub; Marsel Mesulam
Arch Neurol 2008; 65: 244-248. [Abstract] [Full text] [PDF]  

Neurological Reviews
Fragile X–Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Khaled Amiri; Randi J. Hagerman; Paul J. Hagerman
Arch Neurol 2008; 65: 19-25. [Extract] [Full text] [PDF]  

Observations
Juvenile Alpers Disease
Esko Wiltshire; Guido Davidzon; Salvatore DiMauro; Hasan O. Akman; Lynette Sadleir; Lindsay Haas; Jane Zuccollo; Alison McEwen; David R. Thorburn
Arch Neurol 2008; 65: 121-124. [Abstract] [Full text] [PDF]  

Observations
POLG1 Mutations Manifesting as Autosomal Recessive Axonal Charcot-Marie-Tooth Disease
Timothy Harrower; Joanna D. Stewart; Gavin Hudson; Henry Houlden; Graham Warner; Dominic G. O’Donovan; Leslie J. Findlay; Robert W. Taylor; Rajith De Silva; Patrick F. Chinnery
Arch Neurol 2008; 65: 133-136. [Abstract] [Full text] [PDF] [ VIDEO SUPPLEMENT ]  

Observations
Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant
Emma M. Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C. Brown; Cecilia Jimenez-Mallebrera; Caroline A. Sewry; Cheryl Longman; Rachael Mein; Steve Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Arch Neurol 2008; 65: 137-141. [Abstract] [Full text] [PDF]  

Original Contributions
Polygenic Disease Associations in Thymomatous Myasthenia Gravis
Christian Amdahl; Espen H. Alseth; Nils E. Gilhus; Hanne L. Nakkestad; Geir O. Skeie
Arch Neurol 2007; 64: 1729-1733. [Abstract] [Full text] [PDF]  

Original Contributions
Hypertension and the Risk of Mild Cognitive Impairment
Christiane Reitz; Ming-Xin Tang; Jennifer Manly; Richard Mayeux; José A. Luchsinger
Arch Neurol 2007; 64: 1734-1740. [Abstract] [Full text] [PDF]  

Original Contributions
Variability of Age at Onset in Siblings With Familial Alzheimer Disease
Estrella Gómez-Tortosa; M. Sagrario Barquero; Manuel Barón; M. Jose Sainz; Sagrario Manzano; Maria Payno; Raquel Ros; Carmen Almaraz; Pilar Gómez-Garré; Adriano Jiménez-Escrig
Arch Neurol 2007; 64: 1743-1748. [Abstract] [Full text] [PDF]  

Original Contributions
Chronic Pain in Machado-Joseph Disease: A Frequent and Disabling Symptom
Marcondes C. França Jr; Anelyssa D’Abreu; Joseph H. Friedman; Anamarli Nucci; Iscia Lopes-Cendes
Arch Neurol 2007; 64: 1767-1770. [Abstract] [Full text] [PDF]  

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