The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report by Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Maria Lucia Valentino, Sabina Capellari, Sabina Capellari, Rocco Liguori, Rocco Liguori, Valerio Carelli, Valerio Carelli

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The Use of Mechanical Ventilation Support at the End of Life in Motor Neurone Disease/Amyotrophic Lateral Sclerosis: A Scoping Review by Eleanor Wilson, Jeong-Su Lee, David Wenzel, Christina Faull

Subjects: “…motor neurone disease/amyotrophic lateral sclerosis…”
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Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS) by Nazanin R. Kondori, Nazanin R. Kondori, Praveen Paul, Jacqueline P. Robbins, Ke Liu, John C. W. Hildyard, Dominic J. Wells, Jacqueline S. de Belleroche

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Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease. by Guillermo M Alexander, Terry D Heiman-Patterson, Frank Bearoff, Roger B Sher, Laura Hennessy, Shannon Terek, Nicole Caccavo, Gregory A Cox, Vivek M Philip, Elizabeth A Blankenhorn

“…Two genes in this segment, NOTCH3 and Safb/SAFB1, have been associated with motor neuron disease. The identification of genetic modifiers of motor neuron disease, especially those modifiers that are shared by SOD1 and dynactin-1 transgenic mice, may result in the identification of novel targets for therapies that can alter the course of this devastating illness.…”
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Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND) by Gibbons Chris J, Mills Roger J, Thornton Everard W, Ealing John, Mitchell John D, Shaw Pamela J, Talbot Kevin, Tennant A, Young Carolyn A

“…<p>Abstract</p> <p>Background</p> <p>The objective of this research was to develop a disease-specific measure for fatigue in patients with motor neurone disease (MND) by generating data that would fit the Rasch measurement model. …”
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White Matter Microstructure Breakdown in the Motor Neuron Disease Spectrum: Recent Advances Using Diffusion Magnetic Resonance Imaging by Silvia Basaia, Massimo Filippi, Massimo Filippi, Edoardo G. Spinelli, Federica Agosta

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Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease by Guillermo M. Alexander, Terry D. Heiman-Patterson, Frank Bearoff, Roger B. Sher, Laura Hennessy, Shannon Terek, Nicole Caccavo, Gregory A. Cox, Vivek M. Philip, Elizabeth A. Blankenhorn

“…Two genes in this segment, NOTCH3 and Safb/SAFB1, have been associated with motor neuron disease. The identification of genetic modifiers of motor neuron disease, especially those modifiers that are shared by SOD1 and dynactin-1 transgenic mice, may result in the identification of novel targets for therapies that can alter the course of this devastating illness.…”
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Frequency and risk factor analysis of cognitive and anxiety-depressive disorders in patients with amyotrophic lateral sclerosis/motor neuron disease by Cui F, Zhu WJ, Zhou ZB, Ren Y, Li YF, Li M, Huo YY, Huang XS

“…Tailored pharmacotherapy and psychological interventions may help in reducing anxiety and depression in these patients. Keywords: motor neuron disease, amyotrophic lateral sclerosis, cross-sectional study, anxiety, depression…”
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Using blood data for the differential diagnosis and prognosis of motor neuron diseases: a new dataset for machine learning applications by Alberto Greco, Maria Rosa Chiesa, Ilaria Da Prato, Anna Maria Romanelli, Cristina Dolciotti, Gabriella Cavallini, Silvia Maria Masciandaro, Enzo Pasquale Scilingo, Renata Del Carratore, Paolo Bongioanni

“…Abstract Early differential diagnosis of several motor neuron diseases (MNDs) is extremely challenging due to the high number of overlapped symptoms. …”
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P115: Biallelic variations in ATP13A2 manifesting with a complicated motor neuron disease phenotype by Maria Bederson, Dhruv Patel, Jacquelyn Johnson, Robert Bucelli, Christina Laukaitis

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Simultaneous PET/MRI: The future gold standard for characterizing motor neuron disease—A clinico-radiological and neuroscientific perspective by Freimut D. Juengling, Freimut D. Juengling, Freimut D. Juengling, Frank Wuest, Sanjay Kalra, Sanjay Kalra, Federica Agosta, Ralf Schirrmacher, Ralf Schirrmacher, Alexander Thiel, Wolfgang Thaiss, Wolfgang Thaiss, Hans-Peter Müller, Jan Kassubek

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Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis by Peter Bede, Rangariroyashe H. Chipika, Eoin Finegan, Stacey Li Hi Shing, Kai Ming Chang, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Siobhan Hutchinson, Colette Donaghy, Russell L. McLaughlin, Orla Hardiman

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Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND). by Gibbons, C, Mills, R, Thornton, E, Ealing, J, Mitchell, J, Shaw, P, Talbot, K, Tennant, A, Young, C

“… BACKGROUND: The objective of this research was to develop a disease-specific measure for fatigue in patients with motor neurone disease (MND) by generating data that would fit the Rasch measurement model. …”

Trends in death certification for multiple sclerosis, motor neuron disease, Parkinson's disease and epilepsy in English populations 1979-2006. by Goldacre, M, Duncan, M, Griffith, M, Turner, M

“…The objective of this study is to report trends in mortality, as certified on death certificates, from multiple sclerosis (MS), motor neuron disease (MND), primary Parkinson's disease (PD), and epilepsy, analysing not only the underlying cause of death but also all certified causes for each disease. …”

Electrophysiological methods for estimation of the number of motor units by Aysylu F. Murtazina, Aleksandra I. Belyakova-Bodina, Amayak G. Brutyan

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Editorial: Therapeutic modulators inhibiting neuromuscular and motor neuron degeneration by Sidharth Mehan

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Life-threatening misdiagnosis of bulbar onset myasthenia gravis as a motor neuron disease: How much can one rely on exaggerated deep tendon reflexes by Keivan Basiri, Behnaz Ansari, Ali Asghar Okhovat

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Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans by Melissa Nel, Thandeka Mavundla, Kayleigh Gultig, Gerrit Botha, Nicola Mulder, Michael Benatar, Joanne Wuu, Anne Cooley, Jason Myers, Evadnie Rampersaud, Gang Wu, Jeannine M. Heckmann

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Telehealth for amyotrophic lateral sclerosis in a multidisciplinary service in a Brazilian reference center by Emanuela Coriolano Fidelix, Glauciane Costa Santana, Daniele Montenegro da Silva Barros, Mário Emílio Teixeira Dourado Junior

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Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives by Jan Lejman, Kinga Panuciak, Emilia Nowicka, Angelika Mastalerczyk, Katarzyna Wojciechowska, Monika Lejman

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