Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Penny Greenstein"'
Publikováno v:
Movement Disorders. 22:1416-1423
Huntington's disease like-2 (HDL-2) neurodegeneration is a recently described autosomal dominant disorder with features similar to Huntington's disease (HD). Only one case report has described neuropathology from an affected patient. We describe the
Autor:
Stanley Fahn, Astrid Rasmussen, Juliette Harris, Adam Rosenblatt, Jayalakshmi S. Mysore, Thomas D. Bird, Takayoshi Shimohata, Shoji Tsuji, Yoshiki Adachi, Ruth H. Walker, E. Almqvist, Christopher A. Ross, Nicholas T. Potter, Amanda Krause, Penny Greenstein, Tetsuo Ashizawa, Kazuhiro Nakaso, William K. Seltzer, Michael R. Hayden, Marcy E. MacDonald, Lisa Gourley, Susan E. Holmes, Kenji Nakashima, Elizabeth O'Hearn, Russell L. Margolis
Publikováno v:
Annals of Neurology. 56:670-674
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q
Autor:
Penny, Greenstein
Publikováno v:
Medical Clinics of North America. 86:441-446
Tick paralysis is a preventable cause of morbidity and death that, when diagnosed promptly, requires a simple low-cost intervention. The key to success is to consider tick paralysis in the differential diagnosis of ascending weakness, particularly in
Publikováno v:
Movement Disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16bd74eaa3038cb54cbd1ed6fac5c6e0
https://doi.org/10.1891/9781617050589.0045
https://doi.org/10.1891/9781617050589.0045
Autor:
Ronald G. Haller, Mercy M. Davidson, Carolyn M. Sue, Charalampos Karadimas, Salvatore DiMauro, Kurenai Tanji, S. Shanske, Jeffrey T. Joseph, Tanja Taivassalo, Penny Greenstein, Eduardo Bonilla
Publikováno v:
Neurology. 55(5)
Objective: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. Background: Recurrent myoglobinuria is typically seen in patients with inborn errors
Autor:
Melissa P. Upton, Douglas C. Anthony, Jeffrey T. Joseph, Carolyn Sue Richards, Antonio R. Perez-Atayde, Penny Greenstein
Publikováno v:
Neurology. 49(5)
We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born at 35 weeks' gestational age to a mother with myotonic dystrophy and 750 CTG repeats, was markedly hypotonic and had sev
Zebrafish wnt8 and wnt8b share a common activity but are involved in distinct developmental pathways
Publikováno v:
Development (Cambridge, England). 121(6)
The specification of the vertebrate body plan is dependent on numerous signaling molecules, including members of the Wnt family. We have identified two zebrafish wnt8 paralogs related to Xwnt-8B and Xwnt-8, respectively. A RT-PCR assay demonstrated t
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 8(1)
We describe the appearance of left hemineglect and striking cataleptic posturing, more prominent in left-sided extremities, in a patient without psychiatric illness. Neuroimaging demonstrated a large posterior right hemisphere infarct involving the p
Autor:
Takayoshi Shimohata, William K. Seltzer, E. Almqvist, Kazuhiro Nakaso, Russell L. Margolis, Susan E. Holmes, Shoji Tsuji, Marcy E. MacDonald, Amanda Krause, Yoshiki Adachi, Nicholas T. Potter, Stanley Fahn, Astrid Rasmussen, Jayalakshmi S. Mysore, Thomas D. Bird, Lisa Gourley, Juliette Harris, Christopher A. Ross, Adam Rosenblatt, Tetsuo Ashizawa, Kenji Nakashima, Ruth H. Walker, Penny Greenstein, Elizabeth O'Hearn, Michael R. Hayden
Publikováno v:
Annals of Neurology. 56:911-911
Autor:
Philip A. Beachy, Randall T. Moon, Stephen C. Ekker, Jeffery A. Porter, Penny Greenstein, Anne R. Ungar, Doris P. von Kessler
Publikováno v:
Current Biology. (8):944-955
Background: The hedgehog (hh) family of secreted signaling proteins is responsible for developmental patterning in a variety of systems, including the neural tube, limbs and somites. Within the neural tube, at the level of the spinal cord, products o