Suchergebnisse - "Massie, Rami"

PubPharm (53)

1

An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy

enthalten in: American journal of medical genetics. Part A | 2024

von AlSabah, A. | Alsalmi, M. | Massie, R. | +4

2

An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2024

von AlSabah, A. | Alsalmi, M. | Massie, R. | +4

3

Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG) : a randomised, double-blind, placebo-controlled, adaptive phase 3 study

enthalten in: The Lancet. Neurology | 2023

von Bril, V. | Drużdż, A. | Grosskreutz, J. | +113

CommentIn: Lancet Neurol. 2023 May;22(5):368-369. - PMID 37059497

4

Myositis with prominent B cell aggregates may meet classification criteria for sporadic inclusion body myositis

enthalten in: Neuromuscular disorders : NMD | 2023

von Meyer, A. | Troyanov, Y. | Korathanakhun, P. | +22

5

Breakthrough of Granulomatosis with Polyangiitis-Associated CNS Vasculitis Amidst Adequate B-cell Depletion

enthalten in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques | 2023

von Rivet, S. | Pellerin, D. | Massie, R. | +4

6

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

enthalten in: The New England journal of medicine | 2023

von Pellerin, D. | Danzi, M. | Wilke, C. | +49

CommentIn: Mov Disord. 2023 Jun;38(6):957-958. - PMID 37157870

7

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder

enthalten in: Human molecular genetics | 2022

von Paul, F. | Ng, C. | Mohamad Sahari, U. | +18

8

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

enthalten in: The New England journal of medicine | 2022

von Miller, T. | Cudkowicz, M. | Genge, A. | +124

CommentIn: Med. 2022 Nov 11;3(11):733-734. - PMID 36370693

9

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

enthalten in: NPJ genomic medicine | 2022

von Mezreani, J. | Audet, S. | Martin, F. | +9

10

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

enthalten in: bioRxiv.org | 2022

von Paul, F. | Ng, C. | Nafissi, S. | +17

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