Genetic Counseling/ Testing/ Therapy

Citations 91-100 of 122 total displayed.

Past content (since May 1998):

Original Contributions
Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation

John C. Janssen; Peter L. Lantos; Nicholas C. Fox; Richard J. Harvey; Jonathan Beck; Andrew Dickinson; Tracey A. Campbell; John Collinge; Diane P. Hanger; Lisa Cipolotti; John M. Stevens; Martin N. Rossor
Arch Neurol 2001; 58: 953-958. [Abstract] [Full text] [PDF]  

Original Contributions
Mutation Analysis and the Correlation Between Genotype and Phenotype of Arg778Leu Mutation in Chinese Patients With Wilson Disease

Zhi-Ying Wu; Ning Wang; Min-Ting Lin; Ling Fang; Shen-Xing Murong; Long Yu
Arch Neurol 2001; 58: 971-976. [Abstract] [Full text] [PDF]  

Observations
An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman

Beom S. Jeon; Jong-Min Kim; Dong-Soo Lee; Nobutaka Hattori; Yoshikuni Mizuno
Arch Neurol 2001; 58: 988-989. [Abstract] [Full text] [PDF]  

Observations
A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene

Hiroshi Ujike; Yasuyuki Tanabe; Yasushi Takehisa; Toshiyuki Hayabara; Shigetoshi Kuroda
Arch Neurol 2001; 58: 1004-1007. [Abstract] [Full text] [PDF]  

Basic Science Seminars in Neurology
Therapeutic Interventions Following Mammalian Spinal Cord Injury

Alexander G. Rabchevsky; George M. Smith
Arch Neurol 2001; 58: 721-726. [Extract] [Full text] [PDF]  

Original Contributions
Familial Amyotrophic Lateral Sclerosis With a Novel Leu126Ser Mutation in the Copper/Zinc Superoxide Dismutase Gene Showing Mild Clinical Features and Lewy Body–Like Hyaline Inclusions

Yasushi Takehisa; Hiroshi Ujike; Hideki Ishizu; Seishi Terada; Takashi Haraguchi; Yuji Tanaka; Tetsuya Nishinaka; Keigo Nobukuni; Yuetsu Ihara; Reiko Namba; Takeshi Yasuda; Masahiro Nishibori; Toshiyuki Hayabara; Shigetoshi Kuroda
Arch Neurol 2001; 58: 736-740. [Abstract] [Full text] [PDF]  

Original Contributions
Neurologic and Psychiatric Manifestations in a Family With a Mutation in Exon 2 of the Guanosine Triphosphate–Cyclohydrolase Gene

Heidi Hahn; Melissa R. Trant; Michael J. Brownstein; R. Andrew Harper; Sheldon Milstien; Ian J. Butler
Arch Neurol 2001; 58: 749-755. [Abstract] [Full text] [PDF]  

Original Contributions
Improvement in Chronic Ischemic Neuropathy After Intramuscular phVEGF₁₆₅ Gene Transfer in Patients With Critical Limb Ischemia

Drasko Simovic; Jeffrey M. Isner; Allan H. Ropper; Ann Pieczek; David H. Weinberg
Arch Neurol 2001; 58: 761-768. [Abstract] [Full text] [PDF]  

Original Contributions
Spinocerebellar Ataxia Type 1 in China: Molecular Analysis and Genotype-Phenotype Correlation in 5 Families

Yong-Xing Zhou; Wen-Hui Qiao; Wei-Hong Gu; Heng Xie; Bei-Sha Tang; Lian-Sheng Zhou; Bin-Xian Yang; Yoshihisa Takiyama; Shoji Tsuji; Hui-Yu He; Chu-Xia Deng; Lev G. Goldfarb; Guo-Xiang Wang
Arch Neurol 2001; 58: 789-794. [Abstract] [Full text] [PDF]  

Observations
Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency: Occurrence in an Infant and His Father

Marc Bodman; David Smith; William L. Nyhan; Robert K. Naviaux
Arch Neurol 2001; 58: 811-814. [Abstract] [Full text] [PDF]  

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