Publications

ALS Resources

Learn more about Dr. Sourayah’s research.

Dr. Souayah’s ALS-related work spans several areas, including the following:

  • ALS mechanisms and therapeutic targets (e.g., TDP-43, C9orf72, oxidative stress)
  • ALS clinical neurophysiology/electrodiagnostics (improving interpretation of nerve conduction findings in ALS)
  • Preclinical neuromuscular transmission work in ALS models (SOD1 G93A models; motor unit estimation as early marker)

Peer-reviewed ALS publications include:

Pathogenic TDP-43 in amyotrophic lateral sclerosis

Why it matters: TDP-43 pathology is a major hallmark of ALS. This review synthesizes how abnormal TDP-43 contributes to neurodegeneration and highlights therapeutic directions.

Link: https://pubmed.ncbi.nlm.nih.gov/40188980/ 

Targeting Gene C9orf72 Pathogenesis for Amyotrophic Lateral Sclerosis

Why it matters: C9orf72 repeat expansion is a leading genetic cause of ALS. This review summarizes pathogenic mechanisms (gain- and loss-of-function) and therapeutic target opportunities.

Links:

https://pubmed.ncbi.nlm.nih.gov/40362512/ 

https://www.mdpi.com/1422-0067/26/9/4276 

Oxidative stress: pathological driver in chronic neurodegenerative diseases

Why it matters: Oxidative stress and mitochondrial dysfunction are implicated across neurodegeneration. This review includes ALS within a broader mechanistic framework relevant to biomarker and therapy development.

Link: https://pubmed.ncbi.nlm.nih.gov/40563328/

Electrodiagnostic profile of conduction slowing in amyotrophic lateral sclerosis

Why it matters: Electrodiagnostic interpretation can be challenging in ALS. This paper analyzes conduction slowing patterns and clarifies when findings may suggest additional mechanisms beyond pure axonal loss—helpful for improving diagnostic confidence.

Links:

https://pubmed.ncbi.nlm.nih.gov/37520962/

Full text (PMC): https://pmc.ncbi.nlm.nih.gov/articles/PMC10382630/ 

Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis

Why it matters: Clear overview of how C9orf72 repeat expansions produce toxicity (RNA foci, DPR proteins) and how loss of C9orf72 function may contribute—supporting therapeutic target discovery.

Link: https://pubmed.ncbi.nlm.nih.gov/37525497/ 

Differentiating Flail Limb Syndrome From Amyotrophic Lateral Sclerosis

Why it matters: Flail limb syndrome can resemble ALS. This paper examines measurable differences (including respiratory decline patterns) that can support counseling and clinical decision-making.

Link: https://pubmed.ncbi.nlm.nih.gov/32251109/

Defective neuromuscular transmission in the SOD1 G93A transgenic mouse improves after administration of human umbilical cord blood cells

Why it matters: Neuromuscular junction dysfunction is an early and important feature in ALS models. This preclinical study evaluates neuromuscular transmission changes and a cell-therapy intervention in a SOD1 ALS model.

Link: https://pubmed.ncbi.nlm.nih.gov/21678037/ 

Reductions in motor unit number estimates (MUNE) precede motor neuron loss in the plasma membrane calcium ATPase 2 (PMCA2)-heterozygous mice

Why it matters: Motor unit estimation is used in ALS research/monitoring. This work supports the concept that sensitive electrophysiology can detect pathology before overt neuron loss—relevant to early detection and outcome measures.

Links:

https://pubmed.ncbi.nlm.nih.gov/18848933/

Full text (PMC): https://pmc.ncbi.nlm.nih.gov/articles/PMC4226526/

ALS-related presentations/abstracts

Evaluation of Conduction Slowing in Amyotrophic Lateral Sclerosis (Meeting abstract)

Link: https://www.neurology.org/doi/10.1212/WNL.82.10_supplement.P4.110