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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

• Authors : Mademont‐Soler, Irene^1,2 (AUTHOR) ; Esteba‐Castillo, Susanna^2,3 (AUTHOR); Jiménez‐Xifra, Aida⁴ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-9. 9p.

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SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

• Authors : Elert-Dobkowska, Ewelina¹ (AUTHOR) ; Stepniak, Iwona¹ (AUTHOR) ; Radziwonik-Fraczyk, Wiktoria¹ (AUTHOR)

Subjects: *FAMILIAL spastic paraplegia; *SINGLE nucleotide polymorphisms; *HOMOLOGOUS recombination

• Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p5008. 8p.

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Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN)

• Authors : Massachusetts General Hospital; Columbia University; University of Miami ...

• Source: Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot

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Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

• Authors : Darius Ebrahimi-Fakhari, Director, Movement Disorders Program

• Source: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

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Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review.

• Authors : Maccora, Simona^1,2 (AUTHOR) ; Torrente, Angelo¹ (AUTHOR); Di Stefano, Vincenzo¹ (AUTHOR)

• Source: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p963-976. 14p.

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Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

• Authors : Nakamura H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-Ku, Yokohama, 236-0004, Japan.; Doi H

Subjects: Gap Junction beta-1 Protein* ; Phenotype* ; Connexins*/Connexins*/Connexins*/genetics

• Source: BMC neurology [BMC Neurol] 2024 Sep 04; Vol. 24 (1), pp. 310. Date of Electronic Publication: 2024 Sep 04.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Effect of aerobic exercise program on neuropathic pain and quality of life in person with paraplegia: study protocol for a randomized controlled trial.

• Authors : Gera A; Indian Spinal Injuries Centre, Institute of Rehabilitation Sciences, Guru Gobind Singh Indraprastha University, New Delhi, India.; Walia S

Subjects: Quality of Life* ; Neuralgia*/Neuralgia*/Neuralgia*/therapy ; Neuralgia*/Neuralgia*/Neuralgia*/physiopathology

• Source: Trials [Trials] 2024 Sep 02; Vol. 25 (1), pp. 580. Date of Electronic Publication: 2024 Sep 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101263253 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6215

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Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.

• Authors : Hsiao, Cheng‐Tsung^1,2 (AUTHOR); Tsai, Tzu‐Yun³ (AUTHOR); Shen, Ting‐Yi³ (AUTHOR)

• Source: Annals of Clinical & Translational Neurology. Jul2024, Vol. 11 Issue 7, p1909-1920. 12p.

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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

• Authors : Azeem A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.; Ahmed AN

Subjects: Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/diagnosis ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics

• Source: BMC neurology [BMC Neurol] 2024 Sep 20; Vol. 24 (1), pp. 354. Date of Electronic Publication: 2024 Sep 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Vitamin D 3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.

• Authors : Ehnert S; Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.; Hauser S

Subjects: Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/metabolism ; Oxysterols*

• Source: Scientific reports [Sci Rep] 2024 Mar 27; Vol. 14 (1), pp. 7335. Date of Electronic Publication: 2024 Mar 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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