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Neurology. Genetics
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August 13, 2019
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series
Mattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, et al.
Neurology. Genetics
|
February 5, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?
Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, et al.
Neurology. Genetics
|
February 8, 2021
<i>EIF2AK2</i>-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
Daniel G Calame, Meagan Hainlen, Danielle Takacs, et al.
Neurology. Genetics
|
July 20, 2019
Missense mutations in DYT-TOR1A dystonia
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, et al.
Neurology. Genetics
|
January 20, 2022
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis
Melissa Nel, Amokelani C Mahungu, Nomakhosazana Monnakgotla, et al.
Neurology. Genetics
|
February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Neurology. Genetics
|
June 14, 2019
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Per-Ole Carstens, Eva Maria Christina Schwaibold, Katharina Schregel, et al.
Neurology. Genetics
|
March 17, 2022
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the <i>C9orf72</i> Hexanucleotide Repeat Expansion
Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, et al.
Neurology. Genetics
|
April 15, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
Albert L Misko, Levi B Wood, Madeline DeBono, et al.
Neurology. Genetics
|
October 18, 2021
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
Peter A Wijeratne, Sara Garbarino, Sarah Gregory, et al.
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of 102
Search research articles
Search
Showing results (241-250 of 1,011) with videos related to
Sort By:
Page
of 102
Neurology. Genetics
|
August 13, 2019
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series
Mattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, et al.
Neurology. Genetics
|
February 5, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?
Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, et al.
Neurology. Genetics
|
February 8, 2021
<i>EIF2AK2</i>-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
Daniel G Calame, Meagan Hainlen, Danielle Takacs, et al.
Neurology. Genetics
|
July 20, 2019
Missense mutations in DYT-TOR1A dystonia
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, et al.
Neurology. Genetics
|
January 20, 2022
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis
Melissa Nel, Amokelani C Mahungu, Nomakhosazana Monnakgotla, et al.
Neurology. Genetics
|
February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Neurology. Genetics
|
June 14, 2019
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Per-Ole Carstens, Eva Maria Christina Schwaibold, Katharina Schregel, et al.
Neurology. Genetics
|
March 17, 2022
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the <i>C9orf72</i> Hexanucleotide Repeat Expansion
Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, et al.
Neurology. Genetics
|
April 15, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
Albert L Misko, Levi B Wood, Madeline DeBono, et al.
Neurology. Genetics
|
October 18, 2021
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease
Peter A Wijeratne, Sara Garbarino, Sarah Gregory, et al.
Page
of 102