نتائج البحث

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

• Authors : Syeda, Safoora B; Lone, Museer A; Mohassel, Payam

Subjects: Institute of Clinical Chemistry; 610 Medicine & health; 540 Chemistry

• Source: Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth;

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Multicentre, prospective registry study of amyotrophic lateral sclerosis in mainland China (CHALSR): study protocol

• Authors : Ji He; Lu Chen; Dongsheng Fan

Subjects: Medicine

• Source: BMJ Open, Vol 10, Iss 12 (2020)

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Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease

• Authors : Manzano, R; Sorarú, G; Grunseich, C

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Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

• Authors : Ververis, A; Dajani, R; Koutsou, P

Subjects: SIGMAR1 mutation; HMNJ; Jerash dHMNEngland

• Source: 186 ; 178

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Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

• Authors : Mai B Bader; Eleni Zamba-Papanicolaou; Erin Loring

Subjects: Adult; Male; SIGMAR1 mutation

• Source: Journal of Medical Genetics

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Multicentre, prospective registry study of amyotrophic lateral sclerosis in mainland China (CHALSR): study protocol

• Authors : Jia Yu Fu; Jing He; Dongsheng Fan

Subjects: Mainland China; China; medicine.medical_specialty

• Source: BMJ Open, Vol 10, Iss 12 (2020)BMJ Open

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Low index-to-ring finger length ratio in sporadic ALS supports pre-natally defined motor neuronal vulnerability

• Authors : Vivekananda, Umesh; Manjalay, Zita-Rose; Ganesalingham, Jeban ...

Subjects: MOTOR NEURON DISEASE

• Source: ISSN: 0022-3050.

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Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights

• Authors : Ulf Ziemann; Mark Hallett; Andrew Eisen

Subjects: Recruitment, Neurophysiological; Neuromuscular disease; medicine.medical_treatment

• Source: Journal of Neurology, Neurosurgery, and Psychiatry

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