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Orphanet Journal of Rare Diseases
|
June 22, 2023
"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US
Karen M Bailey, Navdeep Sahota, Uyen To, et al.
Annals of Neurology
|
January 10, 2002
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4
Peter Hedera, David Alvarado, Ahmad Beydoun, et al.
Neurology
|
March 30, 2022
When Botulinum Toxin Injections Do Not Help Torticollis
Muhammad Yousaf, Talita D'Aguiar Rosa, Victoria N Holiday, et al.
Archives of Neurology
|
October 13, 2004
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
Peter Hedera, Gerald M Fenichel, Marcia Blair, et al.
Journal of Huntington'S Disease
|
August 14, 2022
Patient and Caregiver Perspectives on Telehealth Use in a Multidisciplinary Huntington's Disease Clinic: A Single-Institution Experience
Diksha Mohanty, Philipp Schmitt, Laura Dixon, et al.
Clinical Parkinsonism & Related Disorders
|
April 17, 2025
Anti-dipeptidyl-peptidase-like protein-6 (DPPX) autoimmune encephalitis associated with severe multifocal dystonia
Eric Roddy, Erik Gentry, Victoria Holiday, et al.
SAGE Open Medical Case Reports
|
May 26, 2017
Case report of novel <i>CACNA1A</i> gene mutation causing episodic ataxia type 2
David Alan Isaacs, Michael J Bradshaw, Kelly Brown, et al.
Parkinsonism & Related Disorders
|
August 23, 2008
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
Lisa M Sharkey, Julie M Jones, Peter Hedera, et al.
Archives of Neurology
|
September 17, 2003
Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin: further support for existence of a new zinc overload syndrome
Peter Hedera, John K Fink, Paula L Bockenstedt, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Epidemiology of Wilson disease in Germany - real-world insights from a claims data study
Shona Fang, Peter Hedera, Julia Borchert, et al.
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of 14
Search research articles
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Showing results (41-50 of 134) with videos related to
Sort By:
Page
of 14
Orphanet Journal of Rare Diseases
|
June 22, 2023
"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US
Karen M Bailey, Navdeep Sahota, Uyen To, et al.
Annals of Neurology
|
January 10, 2002
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4
Peter Hedera, David Alvarado, Ahmad Beydoun, et al.
Neurology
|
March 30, 2022
When Botulinum Toxin Injections Do Not Help Torticollis
Muhammad Yousaf, Talita D'Aguiar Rosa, Victoria N Holiday, et al.
Archives of Neurology
|
October 13, 2004
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
Peter Hedera, Gerald M Fenichel, Marcia Blair, et al.
Journal of Huntington'S Disease
|
August 14, 2022
Patient and Caregiver Perspectives on Telehealth Use in a Multidisciplinary Huntington's Disease Clinic: A Single-Institution Experience
Diksha Mohanty, Philipp Schmitt, Laura Dixon, et al.
Clinical Parkinsonism & Related Disorders
|
April 17, 2025
Anti-dipeptidyl-peptidase-like protein-6 (DPPX) autoimmune encephalitis associated with severe multifocal dystonia
Eric Roddy, Erik Gentry, Victoria Holiday, et al.
SAGE Open Medical Case Reports
|
May 26, 2017
Case report of novel <i>CACNA1A</i> gene mutation causing episodic ataxia type 2
David Alan Isaacs, Michael J Bradshaw, Kelly Brown, et al.
Parkinsonism & Related Disorders
|
August 23, 2008
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
Lisa M Sharkey, Julie M Jones, Peter Hedera, et al.
Archives of Neurology
|
September 17, 2003
Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin: further support for existence of a new zinc overload syndrome
Peter Hedera, John K Fink, Paula L Bockenstedt, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Epidemiology of Wilson disease in Germany - real-world insights from a claims data study
Shona Fang, Peter Hedera, Julia Borchert, et al.
Page
of 14