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Neurology
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February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
European Journal of Neurology
|
September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
Andrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Brain Communications
|
December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease
Abdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Journal of Neurology
|
June 6, 2020
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
Maike F Dohrn, Michaela Auer-Grumbach, Ralf Baron, et al.
The Journal of General Physiology
|
October 24, 2025
Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction
Noortje W M van den Braak, Samuel Kuehs, Greta Z Peschke, et al.
Scientific Reports
|
October 7, 2025
Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags
Janna M Siemer, Lea Grote-Levi, Anja Hänselmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Adriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F Dohrn, Danique Beijer, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Nature Reviews. Disease Primers
|
June 17, 2022
Genetic pain loss disorders
Annette Lischka, Petra Lassuthova, Arman Çakar, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 58) with videos related to
Sort By:
Page
of 6
Neurology
|
February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
European Journal of Neurology
|
September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
Andrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Brain Communications
|
December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease
Abdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, et al.
Journal of Neurology
|
June 6, 2020
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
Maike F Dohrn, Michaela Auer-Grumbach, Ralf Baron, et al.
The Journal of General Physiology
|
October 24, 2025
Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction
Noortje W M van den Braak, Samuel Kuehs, Greta Z Peschke, et al.
Scientific Reports
|
October 7, 2025
Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags
Janna M Siemer, Lea Grote-Levi, Anja Hänselmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Adriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F Dohrn, Danique Beijer, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Nature Reviews. Disease Primers
|
June 17, 2022
Genetic pain loss disorders
Annette Lischka, Petra Lassuthova, Arman Çakar, et al.
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of 6